155 Genetic counseling to try to in \202 uence pregnancy outcome? Three contrasting principles : 1 The parents must decide: counseling must be non-directive. 2 Every newborn child has th e right to be born healthy, if possible. 3 Every child has a right to be born. Non-directiv e counseling is something of a mantra among counselors, partly as a reaction to Nazi eugeni c abuses, and partly because of an un- willingness to promulgate a single view of what is r ight in what can be a very complex area. Public health doctors are questioning this obedien ce to the non-directive ethic because, from their point of view, it makes attain- ment of t heir chief goal more diffi cult \200\224namely to improve the health and wellbeing of all r esidents, including newborns. For example, we should tell pregnant women not to drink much alcohol, public health doctors assert, be- cause this is necessary to prevent the fetal alc ohol syndrome. The same goes for other syndromes. When we know what to do we should state c learly and unequivocally what the mother should do. This is our duty to her and her unborn child. s c i r t a i d e a P Let us examine the public health doctor \200\231s standpoint more closely. He wants to impr ove health. To do this, it is necessary to de \201 ne health. We have done this elsewhere (p470) and have argued that health entails more than just soundness of body and mind. It is not clear that an autocratic society in which patients were told what to do would be more healthy than a society of autonomous individuals each addressing the great questions of hea lth and existence from his or her own viewpoint. Another problem for the public health doctors is that, in the case above, it is not clear w hether the directive \200\230don \200\231t drink if you are pregnant \200\231 would lead t o fewer children with the fetal alcohol syndrome. It might lead to more orphans (a mother k nows she is doing wrong, feels guilty, avoids health professionals, and dies of some unfore seen consequence of pregnancy, or from guilt-borne suicide). 398 As ever, the way forward is not by abstract thought but by getting to know our patients bet ter. There may be rare occasions when we know our patients well enough to risk \200\234You are mad not to follow this advice \200 \200\235. But mostly we can- not be sure that this injunction will work, and it is wiser to explore the patient \200\231s world view and thei r expectations, and then use this knowledge to reframe the bene \201 ts of our proposed ac tion in a way that makes sense to the individual concerned, taking into account his or her culture and system of beliefs. In the UK, the Children \200\231s Act states that the welfare of the child is para- mount. What this means in the context of a family is open to interpretation. Preventing adult diseases \200\224starting in childhood Childhood obesity is rising fast in the West.1 Half the children born in the UK will soon be obese \200\224by the time they ar e 10 399 \200\224with inevitable consequences for heart disease and cancer. It is known fo r example that there is a higher preva- lence of colorectal cancer in men who were overweig ht during adolescence. Similar eff ects are seen for cancers of the endometrium, kidney, ga llbladder, and breast. 400 Consequences vis vis insulin resistance: >30% of obese childr en have insulin resistance (detailed on p252),2 and 25% of all adolescents have 3 or more features of the metabolic syndrome X: obesity, hypertension, dyslipidaemia, and poor glycae mic control. 401 \200\207Risk factors for adult heart disease and DM begin to cluster in \200\230normal \200\231 children. 402 Primary prevention must start in childhood. Hence the need for recognizing small diff erences from normal in apparently health children. See BP table below, and p226 for centile BMI charts de \201 ning obe- sity by age. But do not foc us exclusively on weight. Insulin resistance starts be- fore the teenage years \200\224and may occur in children of near-normal weight. 403 UK incidence of type 2 DM in children: 0.2 : 100,000 404( \200\200 \211\21013 if Asian). When to start prevention? It is never too ea rly (obesity can start with bottle feeding) 405 \200\224and it \200\231s often too late. Re -educate parents, teachers, and children; encourage exer- cise \200\224and less: \200 Fas t foods 406 \200 Soft drinks 407 \200 TV 408 \200 Sun-bathing (melanoma). 409 Cogniti ve therapy (p373) may be the best approach to re-orientate adolescents towards health. 410 156 \200 s c i r t a d e a P We assume that growth and development somewhere in the middle of our centile charts is opti mal. But these charts are not goals \200\224they are statements of heights and weights for particular historical populations. Now population weights are moving up, what appears norma l to parents (and us) may in fact be detrimental. For example, in Plymouth, in the UK, mean weights of toddlers are now 460g heavier than the historic reference population. 411 Age ( Years) Systolic mmHg Diastolic mmHg Systolic mmHg Diastolic mmHg Birth <2 3 \200\2235 6 \200\2239 10 \200\22312 13 \200\22315 16 \200\22318 Take \211 3 BPs (snugly \201 tted cu ff of bladder-width >75% of upper arm length) >1 week apart (in general) before diagnosing hypertension. As the 5th Korotkoff sound (k5) is inaudible, use k4 for diastolic BPs, until adolescence. Some BP standards break populations by age, sex, and height, but this doesn \200\231t greatly change hypertension prevalence. 412,413 Ambulatory BPs can show that whit e coat hypertension is about as common in children as in adults. 414,415 But beware automat ed devices: mercury sphygmomanometers are more accurate, and are of negligible risk to heal th. i Signi \201 cant hypertension Severe hypertension \211 96mmHg3 \211 112 \211 116 \211 122 \211 126 \211 136 \211 142 \211 106mmHg3 \211 118 \211 124 \211 130 \211 134 \211 144 \211 150 \211 74 k4 \211 76 k4 \211 78 k4 \211 82 k4 \211 86 k5 \211 92 k5 \211 82 k4 \211 84 k4 \211 86 k4 \211 90 k4 \211 92 k5 \211 98 k5 1 Health Survey 2005; >25% are currently overweight/obese.416 2 Viner R 2005 Arch Dis Child 90 10417 Correlates of \200\230normal children \200\231 in the top quintile of postprandi al glucose (7.4 \200\22311.4mmol/L): Lower vasodilatation to acetylcholine (Ach, P <0.005) and sodium nitroprusside (SNP, P <0.0 2) than those in the lower quintile (3.9 \200\2234.9mmol/L). \200\200Waist-to-hip ratio and \200\200fasting insulin resistance. \200 \200\200Fastin g triglycerides & cholesterol (r \200\2230.4, P <0.05).418 MODY \200\223maturity onset diab etes of the young. 3 Doppler may be needed. Often only systolic BPs are recordable. Values need adjusting if taller or short- er than expected for age (tables are available); compare d with a 50th height-centile the reference interval is 1 \200\2234mmHg lower for a child on the 5th height-centile (1 \200\2234mmHg higher if on 95th centile).419 157 Causes of raised blood pressure in children Neonates: Renal artery stenosis (or thrombosis) , congenital renal malforma- tions, coarctation of the aorta, bronchopulmonary dysplasia. I nfants: Renal parenchymal disease, coarctation, renal artery stenosis. 6 \200\22310yrs olds : Renal artery stenosis, renal diseases, primary hypertension. Adolescence: Primary hyperte nsion, renal diseases, syndrome X. s c i r t a i d e a P Upper respiratory infection (URTI: OHCM p390; sore throat: p564) Stridor \200 Acute stridor may be a terrifying experience for children; this fear may lead to hyperventilation, which worsens symptoms. Causes: p566. The leading causes to be distinguished are viral croup, ba cterial tracheitis and epi- glottitis (rare in the UK since haemophilus vaccination): see B OX. Don \200\231t forget to consider inhaled foreign body if history doesn \200\231t seem q uite right. Investigations: This is a clinical diagnosis. Lateral neck X-ray ( \201 g 1) m ay show an enlarged epiglottis, but this wastes time at a dangerous and critical time. Crou p (acute laryngotracheobronchitis) Signs: Stridor, barking cough, hoarse- ness from obstruc tion in the region of the larynx. Age: <6yrs. Epidemics: Au- tumn. Causes: Parain \202 uen za virus (1, 2, 3), respiratory syncytial virus, measles (rare). Pathology: Subglottic oede ma, in \202 ammation, and exudate. Croup is classi \201 ed into mild/moderate and severe disease. \201\227: Mild/moderate may be sent home if settles \200\224eg with dexamethasone, 0.15mg/kg PO stat (some give more420) or prednisolone 1 \200\2232mg/kg stat. Anecdotal evi dence says that warm, humid air helps, but mist tents have lost favor: they frighten, and s ubsequent hyperven- tilation worsens distress. In hospital: Aim for minimal interference an d careful watching (TPR; SAO2) by experienced nurses. Watch for severe signs: Restless- nes s; cyanosis (give O2); sternal retractions; rising pulse/respiratory rate; tired- ness. If severe, use nebulized adrenaline421 1:1000 (5mL); if poor response, re- peat, and take to I TU. Remember: volume of stridor is a factor of \202 ow; in severe disease, stridor will b e very soft. Failure to improve with steroids / nebulized adrenaline should prompt the cons ideration of bacterial tracheitis. This is de \201 ned by the presence of thick mucopurule nt exudate and tracheal mucosal sloughing that is not cleared by coughing, and risks occlud ing the airway. There is often a history of a viral infection (such as croup) with an acute deterioration. Pronounced tracheal tenderness may be present. \200 Managing suspected epi glottitis Stay calm! Avoid examining the throat. This may precipitate obstruction. Do not b leed the patient or upset him. Summon the most experienced anesthetist. Ask her to make the diagnosis by laryngoscopy. If epiglottitis (a cherry-red, swollen epiglottis), electively intubate before ob- struction occurs. (A smaller diameter endotracheal tube than normal for that age may be needed). The cause is usually Haemophilus in \202 uenzae type b, treat wi th a 3rd generation cephalosporin (eg cefotaxime, 25 \200\22350mg/kg/8h IV). Bac- terial tr acheitis also bene \201 ts from early intubation, allowing pulmonary toilet and improved v entilation. Treat with cefotaxime + \202 ucloxacillin. Hydrocortisone may be given in bot h, but isn t of proven value. Diphtheria is caused by the toxin of Corynebacterium diphther iae. It usually starts with tonsillitis a false membrane over the fauces. The toxin may cause polyneuritis, often starting with cranial nerves. Shock may occur from myo- carditis, toxemia, or cardiac conducting system involvement. Other signs: dysphagia; muffl ed voice; bronchopneumonia; airway obstruction preceded by a brassy cough (laryngotracheal diphtheri a); nasal discharge with an ex- coriated upper lip (nasal diphtheria). If there is tachycar dia out of proportion to fever, suspect toxin-induced myocarditis (do frequent ECGs). Motor palatal paralysis also occurs causing \202 uids to escape from the nose on swallowing. D iagnosis: Swab culture of material below pseudomembrane; PCR.422 Treatment: \200 Diphtheri a antitoxin: 10,000 \200\22330,000U IM[2](any age; more if severe, see BNF) and erythromyci n; give contacts 7 days \200\231 erythromycin syrup: <2yrs old 125mg/6h PO (500mg per 6h if >8yrs) before swab results are known. Risk \200\200 if: Homeless/refugee; aged 3 \200\223 6yrs old; in \200\230asocial \200\231 families. There is a now partly controlled423 resurg ence of diphtheria in north-west and central Russia424 (relevant to travelers born before 1 942, when vaccination started). Prevention: Isolate until 3 \200\223ve cultures separated by 48h. Vaccination: p151. 158 \200 s c i r t a d e a P i 159 Croup \200 distinguished from \200 bacterial tracheitis \200 and \200 Epiglottitis Common 6 months \200\223 6 years Onset over a few days Uncommon 6 months \200\223 14 years Viral prodrome for 2-5 days, then rapid deterioration Rare 2 \200\2237 years \200 Sudden onset \200 Continuous stridor \200 Stridor softer, snoring \200 Drooling of secretions \200 V oice muffl ed \200 Toxic and feverish (eg T >39 C) Cough not prominent Stridor only when upset Continuous stridor Stridor sounds harsh Stridor may be biphasic Swa llows oral secretions Swallows oral secretions Voice hoarse Likely to be apyrexial Very hoarse Moderate-high fever, ap- pear toxic Barking cough s c i r t a i d e a P Barking cough Fig 1. Lateral radiograph of the neck showing an enlarged epiglottis (red arrow) and thicke ning of the aryepiglottic folds (yellow arrow). There is reversal of the normal lordotic cu rve in the cervical spine and slight dilatation of the hypopharynx. learnin- gradiology.com NB: the aryepiglottic folds are mucous membranes extending on each side between the latera l border of the epiglottis and the summit of the arytenoid cartilage. They form the lateral border to the top of the larynx. Courtesy of Dr William Herring. Lower respiratory infections (LRTI) \200\207If severely ill, think of staphs, streps, TB, and HIV (pneumocystosis, OHCM p154). In chronic cough think of: \200 Pertussis \200 TB \200 Foreign body \200 Asthma. Acute bronchiolitis is the big lung infection in infants ; coryza precedes cough, low fever, tachypnoea, wheeze, inspiratory crackles, apnoea, inter costal reces- sion cyanosis. Typical cause: Winter respiratory syncytial virus (RSV; sin gle- stranded RNA). Others: Mycoplasma, parain \202 uenza, adenoviruses. Those <6 months o ld are most at risk. Signs prompting admission: Poor feeding, >50 breaths/min, apnoea, dehy dration, rib recession, patient or parental exhaus- tion. Tests: PCR/ \202 uorescent antib ody tests rarely contribute. If severe: CXR (hyperin \202 ation); blood gasses/SpO2; FBC. 425 \201\227: O2 (stop when SpO2 \200\20692%); 426 na- sogastric feeds. 5% need ventilati ng (mortality \211\2101%; 33% if symptomatic con- genital heart disease). Don \200\231t us e bronchiodilators and steroids routinely. 427,428 Meta-analyzes don \200\231t support riba virin, 429 antibiotics (except possibly clarithro- mycin 430), inhaled steroids, 431 physio , 432 or prevention with palivizumab (unless concurrent chest disease, chronic lung disease or history of prematurity). 427 Pneumonia 433,434 Signs: T \200\200, malaise, poor feedi ng, tachypnoea, cyanosis, grunt- ing, rib recession; 435 older children may have typical lo bar signs (pleural pain, crackles, bronchial breathing). Admit: if SpO2 <90%; <6months; sig ns of res- piratory distress; suspected MRSA; or concerns about observation at home. 434 Te sts: Consider CXR/FBC/blood and sputum cultures. Detection of in \202 uen- za / respirator y viruses decreases likelihood of needing antibiotics. Viral LRTI is more common than bacte rial infection in children <2, so those with mild symp- toms can typically be discharged wi thout antibiotics (ensure follow up if symp- toms persist). Oral \201\227: Amoxicillin is 1st-line; alternatives: co-amoxiclav, cefaclor, erythromycin, azithromycin, clarithromycin. 433 HIV+ve/multi-drug resistance: Ask lab (cefepime may work). 436 Causes: Pneumococcus, M ycoplasma (hence erythromycin), Haemophilus, Staphs, TB, viral. Monitor: TPR; SpO2. 437 TB Suspect if: overseas contacts, HIV+ve; odd CXR Signs: Anorexia, low fever, failure to thriv e, malaise. Cough is common (may be absent). Diagnosis: Tuber- culin tests (OHCM p398); cul ture + Ziehl \200\223Neelsen stain of sputa ( \211\2103) and gastric aspirate. CXR: consoli dation, cavities. Miliary spread ( \201 ne white dots on CXR) is rare but grave. \201\227 : Get expert help. 6-month supervised plan: 438 isoniazid 15mg/ kg PO 3 \211\210 a week + rifampicin 15mg/kg/PO ac 3 times a week + pyrazinamide (1st 2 months only) 50mg/kg PO 3 tim es a week. Monitor U&E & LFT before and during treatment. Stop rifampicin if bilirubin \200 \200 (hepatitis). Isoniazid may cause neuropathy (give concurrent pyridoxine). \200\207Exp lain the need for prolonged treatment. Multiple drug resistance: OHCM p409. Prophylaxis: If TB-with-HIV, co-trimoxazole prophylaxis is likely to be needed (pneumocystosis, p145). 438 Whooping cough (Bordetella pertussis) Signs: Apnoea; bouts of coughing ending with vomitin g ( cyanosis) worse at night or after feeds. Whoops (not always heard) are caused by insp iration against a closed glottis. Co-infection with RSV (above) is common. Peak age: Infant s, with a 2nd peak in those >14. 439 In the UK, the illness is often mild, with 1% needing admission (eg with second- ary pneumonia); but severe in the very young (may be fatal). 440 \201\231: PCR; culture is unsatisfactory. Fluorescent antibody tests of nasopharyngeal as pirates is speci \201 c but insensitive. Absolute lymphocytosis is common (may be very hig h). Incubation: 10 \200\22314 days. Complications: Prolonged illness (the \200\230100-day cough \200\231). Coughing bouts may cause petechiae (eg on cheek), conjunctival, retinal & CNS bleeds, apnoea, inguinal hernias lingual frenulum tears. Deaths may occur (esp. in i nfants), as may late bronchiectasis. \201\227: Erythromycin is often used in those likely to expose infants to the disease (bene \201 t unproven). Admit if <6 months old (risk of a pnoea). May need ventilating and even ECMO (p109). Vaccine: p151, not always eff ective. 30 % of severe infections are via a fully vaccinated sibling. 160 \200 s c i r t a d e a P i 161 \200\230Chesty \200\231 infants and virally induced lower airways disease Many children wi th cough and wheeze do not \201 t into the categories oppo- site, and are too young for a diagnosis of asthma to be made with con \201 - dence. These infants often end up being tr eated with escalating broncho- dilator therapy with frequent courses of antibiotics against uncultured organisms. While it is true that asthma can begin in infancy, most of these che sty infants do not have asthma \200\224but we tend to prescribe \200\230just in case \200 \231. As the natural history of symptoms is to vary from hour to hour, sometimes we appear to be successful. NB: viral wheeze/virally induced respiratory distress or virally induced lower airways disease (VILAD) may be the ap- propriate label here: it is a non-atopic disor der; respiratory syncytial virus is more often the culprit rather than Haemophilus. An alte rnative diagnosis is altered awareness of minor symptoms, or multi-trigger wheezing to ex- ercise, smoke, cold air, viruses and allergens. 441 When viruses are looked for (found in 8 0%), it turns out that together rhinoviruses, coronaviruses, human metapneumovirus, and hum an bocovirus account for 60% of viruses. 442 Al- though symptom scores and need for GP cons ultations are highest in infants with RSV, they are similar in infants infected with other viruses. 442 s c i r t a i d e a P The role of passive smoking is uncertain. \200\230Happy wheezers \200\231 (ie undistressed ) probably need no treatment, but if chest symptoms start very early in life, a sweat test is needed to rule out cystic \201 brosis. Between these ends of the spectrum of \200\230 chestiness \200\231 lie those who clearly need some help. These may bene \201 t from inhal ed \200 2-agonists (via a spacer) inhaled steroids, given for 8 weeks in the lowest ef f ective dose (not if this would mean almost continu- ous exposure). Assess bene \201 t by \200\201 in sleep disturbance. If ill enough to con- sider admission to ITU, 3 days \200 \231 oral prednisolone 2mg/kg/day can \200\201 duration of symptoms in children 6 \200\223 35 months old with VILAD. 443 Other randomized trials disagree, so steroids may be best res erved for the aptopic. 444 Aim to engage in a constructive dialog with parents so that they under- stand that treatmen t is often unsuccessful, but that their child is unlikely to come to harm, while he or she is \200\230growing out of it \200\231. If cough is a chronic problem, exclude serious causes (eg TB; foreign body; asthma) and rea ssure. There is no good evidence that brand name cough medicines are better than placebo \200\224but they may help the parents. Alternative therapies: Prevention and treatment of w inter chestiness/ upper respiratory infections (URTI) may be possible with herbal remedies vitamin C. Parents may ask about this. Chizukit , for example, has 50mg of echinacea (E . purpurea + E. angustifolia roots) plus 50mg of propolis, and 10mg of vitamin C per mL. Ec hinacea is considered to be an immune stimu- lant (animal studies show eff ects on cytokine s, macrophages, and natural killer cells). In the Coleman meta-analysis (children + adults) , echinacea \200\201 risk of URTI by 58% (by 86% in one trial when combined with vit C). 4 45 It can \200\201duration of URTI by 1 \200\2233 days. Propolis is found in beehives and is said to be anti-infective. Vitamin C is possibly immunomodulatory. In one randomized stu dy, reductions of >50% were seen in diagnoses of URTI, otitis media, pneu- monia, and tonsi llo-pharyngitis. Follow-up was poor because of its unpleas- ant taste. 446 (Do not assume t hat herbs and vitamins are harmless: apoptosis may be aff ected, and \200\200risk of neopl asia in adults has been suggested) 444 \200\224see also salicylate poisoning, p192. Cystic \201 brosis This is one of the commonest autosomal recessive diseases ( 1 : 2000; 1 : 22 of Caucasians are carriers); it re \202 ects mutations in the cystic \201 brosis trans- membrane conductance regulator gene (CFTR) on chromosome 7, which codes for a cycli c AMP-regulated sodium/chloride channel. There is a broad range of severity of exocrine gla nd function, leading to meconium ileus in neonates (and its equivalent in children), lung d isease akin to bronchiectasis, pancreatic exocrine insuffi ciency and a raised Na+ sweat le vel \200\224depending in part on the type of mutation (often \200 F508; but other mutation s, eg in intron 19 of CFTR, cause lung disease but no increased sweat Na+). 162 \200 Antenatal (p152) carrier-status testing is possible, as is preimplantation analysis after i n vitro fertilization: at the 8 cell stage, 1 cell is removed from the embryo, and its DNA analyzed; only embryos without the cystic \201 brosis gene are reimplanted. This may be m ore acceptable than fetal terminations. Diagnosis 10% present with meconium ileus as neonat es. Most present later with recurrent pneumonia ( clubbing), steatorrhoea (if >7g/day/100g of undi- gested fat), or slow growth. Sweat test1: Sweat Cl \200\223 <40mmol/L is normal ( CF probability is low); >60mmol/L supports the diagnosis. Intermediate results are suggesti ve but not diagnostic of cystic \201 brosis. 447 The test is capricious, so \201 nd an experienced worker (there are false positives and false negatives; see OPPO- SITE). Sweat i s collected onto \201 lter paper \201 xed to the forearm. 448 Other tests: IRT/DNA (bel ow)2; CXR: shadowing suggestive of bronchiectasis (esp. upper lobes); malabsorption screen; glucose tolerance test; spirometry; sputum culture. Mycobacterial colonization aff ects up to 20%; consider if rapid deterioration. Neonatal screening using immunoreactive trypsin ( IRT): Dried blood sam- ples at 3 days old, after consent (the French regimen). If IRT \200 \200, DNA analysis is done on the same sample \200\224looking for \211 30 mutations (gives 85% coverage). 449 This is routine on the newborn blood spot screening (Guthrie card). 450 \202\221 \200\207Genetic counseling (p154). Long survival depends on antibiotics and goo d nutrition. Respiratory problems (neutrophilic airway in \202 ammation): Start physiother apy ( \211\2103/day) at diagnosis. Teach parents percussion + postur- al drainage. Older ch ildren learn forced expiration techniques. Organisms are usually Staph aureus, H. in \202 uenzae (rarer), and Strep pneumoniae in younger children. Eventually >90% are chronically i nfected with Pseudomonas aer- uginosa. Burkholderia cepacia (Ps cepacia) is associated with rapid progres- sion of lung disease (prompt diagnosis using PCR may be available: isolate the patient). Treat acute infection after sputum culture using higher doses, and for longer than normal. If very ill, ticarcillin, 80mg/kg (max 3.2g)/6 \200\2238h IV (if aged >1 mont h) + gentamicin, p175, or ceftazidime (50mg/kg/8h IV) alone may be needed \200\230blind \200\231. Nebulizing ticarcillin and tobramycin at home does prevent admissions. Colistin a nd meropenem are reserved for panresistant P. aerugi- nosa. 451 In reversible airway obstru ction, give inhaled salbutamol. Look for Aspergillus in sputum. Ensure full vaccination (+p neumococcal). Methicillin- resistant Staph aureus is unlikely to do great harm to the lungs . 451 Gastrointestinal problems & nutrition: Energy needs rise by 130% ( \200\223 chronic lung in \202 ammation). Most have steatorrhoea from pancreatic malabsorption and need enzy mes: Pancrex V powder mixed with tepid food for infants \200\224 and Pancrex V Forte fo r older children, \211 10 tabs/meal \200\224to give regular, 1 Explain the test and the re ason for doing it. Give written information sheet. Other rules: s c i r t a d e a P i Sweat tests can be done at 2wks old in infants >3kg who are normally hydrated and without s igni \201 - cant systemic illness. In term infants, sweat sodium and chloride can be high in the \201 rst 7 days. Delay sweat tests if oedematous or if on systemic steroids. (Flucloxacillin is OK.) \200 For safety, do not do if on O2 by an open delivery system (headbox & nasal prong O2 are OK) . \200 Stimulation, collection, storage, and analysis of sweat must be done according to written standards. Sweat should be collected for <30min and \211 20min.452 2 Having 2 mutations is associated with severe disease ( \200 f508, w1282x, g542x, n1303k, 1717-1g \200\203a). Carry- ing one mutation may not be so bad (3849 + 10 kb \200\203 A T). 453 formed, non-greasy bowel actions. Most older chil- dren have enzymes in microspheres (eg Cr eon ) so fewer tablets are needed. Omeprazole (or cimeti- dine, or ranitidine) helps absor ption by \200\200duodenal pH. 454 If all this controls steatorrhoea, a low-fat diet is not needed, but vitamins are still needed (A & D, eg as Abidec 0.6mL/24h PO for infants or a s multivitamin capsules 2/24h PO for older children). Diet should be high calorie/high prot ein. Fine-bore nasogastric feeding is needed only if weight cannot otherwise be maintained. GI obstruction if Creon is omitted: admit urgently to a specialist center for medical tr eatment (avoid laparotomy unless perforation imminent). Impaired glucose tolerance: Risk ri ses with age and is higher if homozygous for \200 F508 mutations. Insulin may be needed; o ptimize diet, then optimize dose, not vise versa. Only try oral hypoglycaemics if nutrition is satisfactory. 455 Psychological help: Parents and children need expert counseling \200 \224and tran- sitional clinics with multidisciplinary teams when transferring from pediatri c to adult services. The Cystic Fibrosis Research Trust can help here. Meconium ileus Prese nts with failure to pass stool or vomiting in the 1st 2 days of life. Distended loops of bo wel are seen through the abdominal wall. A plug of meconium may show as a \201 rm mass in one such loop. In causes other than CF, lateral decubitus \201 lms show \202 uid level s. Tiny bubbles may be seen in the meconium ( \200\230inspissated \200\231). Options: \200 Nasogastric tube drainage \200 Washout enemas \200 Excision of the gut containing mos t meconium. Prognosis Death may be from pneumonia or cor pulmonale. Most survive to adultho od (median survival is >31yrs, and possibly >50yrs for those born after 2000). 456,457 5-ye ar survivorship models take account of forced expiratory vol- ume in 1sec (% of expected), gender, weight-for-age z score, pancreatic func- tion, plasma glucose, Staph aureus and Bur kholderia cepacia infection, and number of acute lung exacerbations/yr. 458 Newer options R ecombinant human deoxyribonuclease (rhDNase) has been shown to improve lung function and re duce the number of pulmonary exacer- bations \200\224and, over the long term, the natural ( untreated) increase in elastase activities and interleukin-8 concentrations can be curtaile d. 459 Lung transplantation (heart + lung, or double lung) is getting safer; consider in th ose who are deteriorating (FEV1 <30% of expected) despite maximum ther- apy, provided nutri tion is good, and there is no TB or aspergillus. Good results are limited by donor availabi lity (avoid raising hopes). Gene therapy aims to deliver normal copies of the cystic \201 brosis gene into patients, so allowing them to make CFTR protein. Viral vectors and liposo mes have been used to get the gene into cells. 460 Pitfalls of the sweat test 461 False-pos itive sweat test: May be seen in atopic eczema, adrenal insuffi cien- cy, ectodermal dyspla sia, some types of glycogen storage diseases, hypothy- roidism, dehydration, malnutrition. On the \201 rst day of life, up to 25% of normal newborns show a sweat sodium concentrati on >65mmol/L, but this rapidly declines on the second day after birth. False-negative sweat test: Oedema is the most important cause. Poor tech- nique can also give false negative re sults. 163 Complications of CF \200 Haemoptysis \200 Pneumonia \200 Pneumothorax \200 Pulmonar y osteo- arthropathy Diabetes mellitus \200 Cirrhosis \200 Cholesterol gallstones \200 Fibrosing colonopat hy \200 Male infertility s c i r t a i d e a P \200 Asthma in children >2yrs old BTS guidelines462 In the developed world, asthma is the leading chronic illness in children. 463 It implies reversible airway obstruction (peak \202 ows vary by >20%) wheeze, dyspnoea, or cough. >20% wheeze at some time. Prevalence \200\200 if: Birthweight \200\201; family history; bottle fed; atopy; \200 ; pollution; 4 64 past lung disease; paracetamol use. 465 Genetics: Asthma susceptibility genes are descri bed (eg ADAM33).Trig- gers: Pollen; dust; feathers; fur; exercise; viruses; chemicals; smok e; traffi c. \201\231 \201\231: Foreign body; pertussis; croup; pneumonia/TB (do CXR!); 46 6 hyperventilation; as- piration; cystic \201 brosis (wet cough, starting at birth, failu re to thrive).Severe asthma: (Not always distressed.) Too breathless to speak/feed; >40 bre aths/ min <5y >30 if 5 \200\22312y, \211 25 if >12y; pulse >140 beats/min <5y; >125 if 5 \200\22312y, \211 110 if >12y; pulse \211 120 (or >130 if <5yrs); peak \202 ow \211 predicted 5 \200\22312yrs, 33 \200\22335% if >12yrs. Life-threatening if: Peak \202 ow < \205\223 of predicted \200 Cyanosis \200 Silent chest \200 Fatigue or exhaustion \200 Confused/agitation/ \200\201consciousness/coma. Treatment \200 Avoid triggers \200 Check inhaler technique: metered dose inhaler (MDI)1 + Spacer2 below the age of 8. Then powders which need high inspirato- ry \202 ow ( \211 60L/min) in the starting phase; or p ropellant systems (need constant \202 ow, 40 \200\22390L/min) with long duration; \200 \207teaching both at once doesn \200\231t work! 467 \200 Address fears \200 Have a self -management plan \200 Check compliance \200 Give a peak \202 ow meter \200 Rescue p rednisolone may be needed at any time, 1 \200\2232mg/kg/ day PO for \211 48h. Step up when needed, and back down as symptoms allow, to avoid over-treatment. 1 Occasional \200 -agon ists via pMDI.1 If needed \200\2063 \211\210/week, add step 2 (also if >5 yrs 164 \200 s c i r t a d e a P i and many exacerbations, or asthma wakes from sleep >once/wk). 2 Add inhaled steroid,2 eg beclometasone: specify brand 468 as potencies vary: Clenil Modul ite 50 g is a lower-potency CFC-free inhaler; Qvar 50 g (CF free) is high-potency. Us e up to 200 g of Clenil /12h. 469 3 Review diagnosis; check inhaler use/concordance; eliminate triggers; moni- tor height. If <5yrs: Add 1 evening dose of montelukast 4mg as a mouth- dissolving capsule. If >5yrs: Add inhaled salmeterol 50 g/12h (long-acting \200 -agonist); monitor closely; stop if of no help. If symptomatic \200\200 inhaled steroid and try montelukast 5mg or theophylline, eg Slo-Phyllin 125 \200\223250mg/12h PO if 6 \200\22312yrs. If problems remain, add in step 4. 4 Refer to specialist ( CXR). 470 \200\200Inhaled steroid (Clenil 400 g/12h). 5 Add p rednisolone (if >5yrs) at lowest dose that works; check: growth. Dose examples: \200 -agon ists: Salbutamol 100 g via MDI as needed, with spacer. Admit if an attack is not controlle d by 2 \200\2234 puff s/20 \200\22330min (max 10 puff s). Anti- muscarinics: Ipratropium 20 g/8h by aerosol if 6yrs old; 40 g/8h if older. Treating severe asthma Calmness helps. \200\226Give these treatments if the above life-threatening signs are present, or if not im proving 15 \200\22330min after \200\224 starts. 1 Sit up; high- \202 ow 100% O2 if SpO2 < 92% in air 2 Salbutamol: 5mg O2-nebulized in 4mL saline (2.5mg if <5y) 15 g/kg slow IV (monitor ECG) 3 Prednisolone soluble tabs, 1 \200\2232mg/kg to max 40mg (60mg if already on steroids & <12yr), 50mg >12y 6 Consider 1 IV dose of magnesium sulfate, 40mg/kg over 20min ( \211 2g); intracellular Mg2 + is \200\201 471 7 Peak \202 ow before & after each nebulizer; normal values, see BOX 8 Nebulizers as needed, eg at 30 min, 1h, 2h, 3h & 4h with ipratro- pium 0.25mg mixed in if n eeded 9 Take to ITU if exhausted, confused, coma, or refractory to \200\224 and need- ing IVI salbutamol (2 g/kg/min) 4 Oxygen nebulised ipratropium 250 g if <12y, 500 g if >12y 5 \200\226Aminophylline 5mg/kg IV over 20min (not if al- ready on a xanthine); then IVI am inophylline (BOX) Before discharge ensure: \200 Peak \202 ow >75% of predicted \200 Good inhaler tech- nique \200 Is stable on discharge regimen \200 Taking inhaled steroids+oral predniso- l one \200 Written management plan \200 Follow-up: GP in 1 week; in clinic in 4 weeks. P revention \200\201Triggers. 472 A Mediterranean diet rich in fruit (esp. if eaten by the m other in pregnancy) may help. 473 Homeopathy 474 and \202 u vaccination don \200\231t hel p. 165 Peak \202 ow (litres/min) in normal boys and girls (5 \200\22318 years) Height cm Mean 100 113 120 125 130 135 140 145 3rd centile Height cm Mean 3rd centile 300 320 350 370 400 430 450 470 500 110 160 210 240 260 290 310 350 150 155 160 165 170 175 180 185 190 360 400 420 450 470 500 520 550 570 100 140 160 190 220 240 270 s c i r t a i d e a P Lung function measurements cannot reliably guide management in those <5yrs old. Inhaler and nebulizer questions \200 If <8yrs old, pressurized metered dose inhalers (pMD I)1 with a spacer2 are best for routine use in stable asthma for both steroids and bronchod ilators. Nebulizers are not more effi cacious than a well-used inhaler. \200 Avoid using dry powde r inhalers + pMDIs as techniques get muddled. \200 Is there a better alternative to nebul izers (bulky and need servicing)? Evidence supports valved holding chambers (eg AeroChamber Plus ).2 475 \200 Do combined inhalers off er added value? The SMART study Symbicort mainte- nance & relief therapy shows real bene \201 t from a \201 xed dose of long-actin g \200 -agonist (formoterol) with budesonide (4.5/80 g/day + additional puff s for sympto m relief). Doc- tor dependency was less, and there were fewer exacerbations. 476 Continuous IVI of aminophylline Aminophylline mg/kg/h \200\207Monitor ECG 1.0 0.5 \200\2230.7 After loading dose3 of 5mg/kg IV 1 month \200\22312yrs Children >12yrs \200\207Confer with experts; target serum level: 10 \200\22320mg/L. SE: BP \200\201; arrhythmias; arrest if \200\20625mg/L. Pitfalls in managing asthma \200 Reluctance to diagnose until a serious attack occurs. \200 Faulty inhaler technique. Watch the patient operate the device. \200 Inadequate per ception of, and planning for, the severe attack. \200 Unnoticed, marked diurnal variation in airways obstruction. Always ask about nocturnal waking; it is a sign of dangerous asthma. Being satis \201 ed with less than total symptom control. \200 Forgetting to start proph ylaxis \200\224and not using oral prednisolone early. \200 Too much inhaled steroid (>400 g beclometasone or >800 g of budesonide)/ day if \200\20512yrs old: 477 4 consider adre nal insuf \201 ciency if \200\201consciousness; do blood glucose; IM hydrocortisone may b e needed. Monitoring growth is not a good way to screen for adrenal suppression (cortisol \200\205500nmol/L). 478 1 pMDI=press-and-breathe pressurized meter dose inhaler \200\224as recommended by NICE. 2 S pacers: (eg AeroChamber \200\224a responsive inspiratory valve allows opening on minimal eff ort to aid inhalation; it closes before exhalation disturbs retained aerosol) Static ch arge is a problem. Clean monthly. Wash in detergent. Dry in air. Wipe mouthpiece clean of d etergent before use. Replace yearly. 3 If previous theophyllines used but level is subthera peutic, a unique loading dose may be tried; to help calculate this, increasing a dose by 1m g/kg causes an increase in serum theophylline of 2 g/mL. Get help. Erythromycin \200\200 aminophylline \200\231s half-life \200\224also cipro \202 oxacin, propranolol, and the Pil l. Drugs which \200\201t : phenytoin, carbamazepine, barbiturates, and rifampicin. Do pla sma concentrations. 4 Anti-IgE agents may \200\201 need for steroids. Omalizumab is a reco mbinant humanized monoclonal an- tibody directed against IgE and can inhibit the immune sys tem \200\231s response to allergen exposure. It pre- vents IgE from attaching to mast cells , reducing IgE mediated in \202 ammation.479 Infective endocarditis (IE) Signs Fever, splenomegaly, clubbing, splinter hemorrhages, anem ia, rash, heart failure, microscopic haematuria, new murmur (eg with known congeni- tal hea rt lesion or IV line in situ). Typical cause: Streps; staphs. 480 Tests Blood cultures (dif f erent times and diff erent sites), echocardiograms. Blind treatment After 3 blood culture s: benzylpenicillin 25mg/kg/4h IV + gen- tamicin (p175); get microbiological help. Preventi ng endocarditis Prophylactic antibiotics are now generally not rec- ommended. Advise on ora l hygiene. 481 166 OHCM p144 \200 Rheumatic fever This is a systemic febrile illness caused by a cross-sensitivity reaction t o Group A \200 -haemolytic streps, which, in the 2% of the population that is susceptible, may result in permanent damage to heart valves. It is common in developing countries, but is rare in the West, but pockets of resurgence sometimes occur in the USA in overcrowded ar eas (favors streptococcal spread). Some speci \201 c Group A streptococcal serotypes are k nown to be particularly rheumatogen- ic \200\224eg type 5 of the M-protein serotypes. Other ubiquitous serotypes appear to be non-rheumatogenic (eg type 12). 482 Incidence: 500,000/y r (worldwide). 483 Jones diagnostic criteria are said to be over-rigorous (will miss some c ases) 484 \200\224but here they are: elicit 2 major criteria or 1 major and 2 minor plus ev idence of preceding strep infection: scarlet fever, a throat swab with \200 -haemolytic st reptococci or a serum ASO titre >333U/L (reference intervals vary). 485 s c i r t a d e a P i Major criteria: (revised 2001) \200 Carditis (1 of: changed murmur; CCF; car- Minor criteria: \200 Fever \200 ESR >20mm or C-reactive protein \200\200 \200 Arthral gia, ie pain but no swelling \200 ECG: PR interval >0.2sec \200 Previous rheumatic feve r or rheu- diomegaly; friction rub; +ve echo)