A 15-year-old male with renal failure was referred to our center for dialysis treatment. Two weeks prior to referral, he was brought to an orthopedist for a suspected bone disorder characterized by worsening lumps on his left hand and ankle, which was noticed by his mother about 1 year before presentation. However, she had assumed that the swelling to his left hand was due to biting. In addition, swelling to his left ankle occurred after several leg strengthening exercises conducted by a physiotherapist. The orthopedist later recommended magnetic resonance imaging (MRI). On MRI preparation, the patient was found to have a high urea level and was thus referred to a pediatric nephrologist who subsequently initiated dialysis. His mother also claimed that the urine volume of her son had decreased within the last few weeks. On the second day of hospitalization, the swelling in his left ankle burst and thick masses containing blood, debris, and white crystalized materials were observed.\nThe patient was born to healthy non-consanguineous parents with no family history of HPRT deficiency (). At the age of 1 day, the patient developed stiffness in both hands. When he was 2 months old, he was diagnosed with severe psychomotor retardation and could only lie down. A pediatric neurologist diagnosed the patient with cerebral palsy at the age of 7 months based on computed tomography results showing cerebral atrophy. The patient has a habit of biting his lower lip, buccal mucosa, and left hand, which was evident since the age of 6 years, for which an occlusal bite guard was once used years before to protect his teeth. However, he refused to use it, which resulted in the extraction of some of his upper teeth. At present, he is unable to talk or communicate normally, but can express anger through agitating behavior. Moreover, his parents remarked about the occasional presence of orange sand-like sediments found in his diaper, which first occurred at the age of 3 years. However, a local pediatrician assumed that the patient was merely dehydrated and recommended increased water intake and intravenous fluid treatment, but neglected to measure his uric acid levels.\nOn a physical examination, deformities to the lower lip were noted (). A neurological examination revealed hypotonicity, dystonia, and clonus of all four extremities (). Single lump was seen on the antihelix of the earlobe (), along with multiple lumps on his extremities () and larger lumps similar to abscesses on his left hand and ankle (). He had scoliosis and flexion contracture of the hip, knee, and shoulder. He weighed 22 kg and was 140 cm tall (less than the third percentile of the Centers for Disease Control and Prevention, National Center for Health Statistics 2000 growth chart). The diuresis rate was 0.9 mL/kg/h. The laboratory workup results showed a hemoglobin level of 60 g/L (6.0 g/dL), serum uric acid level of 1608 µmol/L (27 mg/dL), urea level of 99.96 mmol/L (280 mg/dL), creatinine level of 671.8 µmol/L (7.59 mg/dL), and an estimated glomerular filtration rate of 7.6 mL/min/1.73 m2 (New Schwartz).\n24-h urine collection revealed a uric acid level of 1.1 mmol/24 h (186 mg/24 h) (with a total urine volume of 430 mL) and random urine uric acid to creatinine (UA/C) ratio of 2.7 (mg/mg). Electrolyte analysis indicated metabolic acidosis (bicarbonate level of 14.1 mmol/L), hyponatremia (sodium level of 129 mmol/L), hyperkalemia (potassium level of 7.14 mmol/L), and hyperphosphatemia (2.77 mmol/L). Other electrolytes were within normal limits.\nChest radiography showed thoracic scoliosis (). Arthrography or joint X-ray of the left hand and ankle showed revealed the presence of tissue masses (). After the lump on the left ankle burst, debridement and exploration sessions were performed in the left wrist and ankle, which revealed tophi of several joints (). Along with the debridement and exploration procedures, bone biopsy results confirmed juvenile gouty arthritis ().\nKidney ultrasonography revealed bilateral atrophic kidneys (left kidney: 5.4 × 2.9 cm; right kidney: 6.9 × 4.3 cm) with multiple stones in the right renal pelvis (). A diagnosis of LND was confirmed via genetic testing showing a homozygous deletion of exon 1 of the HPRT1 gene. The samples were sent to a foreign genetic laboratory and the results were obtained 1 month later. HPRT enzyme levels could not be measured in a timely fashion due to logistic challenges, such as unstable temperature for sample delivery and the inability to provide a short delivery time.\nHemodialysis was initiated, which was followed by regular hemodialysis within a week, but was switched to continuous ambulatory peritoneal dialysis to provide better long-term quality of life for the patient and his caregiver. The patient received a red blood cell transfusion, allopurinol treatment at a dose of 300 mg/day, a low-purine diet, and treatment for ESRD, which included subcutaneous erythropoietin (EPO) supplementation of 6000 U/week, oral calcitriol at a dose of 0.5 mcg daily, oral CaCO3 at 500 mg three times daily (with a meal), oral folic acid at 5 mg once daily, and one tablet of oral vitamin B complex daily. With treatment, serum uric acid levels decreased to 470 µmol/L (7.91 mg/dL) within 2 weeks. During a follow-up visit at 2 months after the tophi burst, the patient appeared to be more responsive when communicating with others. Moreover, the swelling to his ankle and wrist had significantly improved. The patient complied well to the treatment regimen and peritoneal dialysis caused no side effects. The results of a follow-up laboratory workup at the outpatient clinic were as follows: serum uric acid level of 336 µmol/L (5.65 mg/dL), serum urea level of 14.2 mmol/L (39.76 mg/dL), serum creatinine level of 323 µmol/L (3.65 mg/dL), and random urine UA/C ratio of 0.42 mg/mg. The parents were advised to undergo genetic consultation to identify if their daughters were carriers or if their other son also carried the mutation. The prognosis of the patient was poor because of the presence of ESRD accompanied with multiple irreversible abnormalities.
A 25-year-old female patient on longstanding continuous ambulatory peritoneal dialysis (CAPD), due to end stage renal disease (ESRD) complicating lupus nephritis, presented with respiratory distress following dialysate infusions. Repeated chest X-rays showed recurrent large right pleural effusions (), requiring repeated therapeutic taps.\nAs a result of her shortness of breath, a clinical diagnosis of pulmonary embolus (PE) was considered. Computed tomography pulmonary angiogram (CTPA) was performed and excluded pulmonary embolus. The CTPA confirmed large right pleural effusion with some underlying consolidation () and small left pleural and large pericardial effusion (). Although the right pleural effusion was large and out of keeping with a systemic cause, the presence of the pericardial effusion and very small left pleural effusion suggested the diagnosis of fluid overload.\nHowever, the patient did not improve with clinical management for fluid overload and at that stage, the possibility of communication between the peritoneal and pleural cavity was considered. Peritoneal scintigraphy was performed using 3mCi Technetium Tc-99m Macroaggregated Albumin (Tc-99m MAA) injected into the abdominal dialysate port. The scan demonstrated a progressive increase in activity in the right lung, confirming the diagnosis of pleuroperitoneal leak (). Peak activity values were measured to quantify the leak, which would be beneficial in treatment decision making as well as in monitoring her progress. Our patient was managed conservatively by changing to biweekly haemodialysis and monitoring her progress closely.