Less common features included ophthalmological involvement (conjunctivitis and/or uveitis, or less commonly optic nerve atrophy, cataract, glaucoma or impaired vision; 71% of cases), neurosensory hearing loss (42% of cases), neurological involvement (morning headache, papilloedema, and/or meningitis, or less commonly seizure, hydrocephalus or mental retardation; 40% of cases), and AA amyloidosis (4% of cases).In keratoendotheliitis fugax hereditaria, systemic symptoms are not reported whereas the patients experience periodical transient inflammation of the corneal endothelium and stroma, leading to short term blurring of vision and, after repeated attacks, to central corneal stromal opacities in some patients.Age of onset is typically in infancy or early childhood. In 57% of cases, CAPS had a chronic phenotype with symptoms present almost daily, whereas the remaining 43% of patients experienced only acute episodes. Up to 56% of patients reported a family history of CAPS. Previous studies confirm these symptoms, although the exact reported rates vary. Pathogenesis
Cryopyrin-associated periodic syndromes are associated with a gain-of-function missense mutation in exon 3 of NLRP3, the gene encoding cryopyrin, a major component of the interleukin 1 inflammasome. In keratoendotheliitis fugax hereditaria, the mutation occurs in exon 1. Intracellular formation of the interleukin 1 inflammasome leads to the activation of the potent pro-inflammatory cytokines interleukin 1β and interleukin-18 through a cascade involving caspase 1. The IL-1 inflammasome may also be released from activated macrophages, amplifying the cytokine production cascade. The mutation in NLRP3 leads to aberrant formation of this inflammasome and subsequent unregulated production of interleukin 1β.Up to 170 heterogenous mutations in NLRP3 have been identified.
Calcium gluconate is a mineral supplement and medication. As a medication it is used by injection into a vein to treat low blood calcium, high blood potassium, and magnesium toxicity. Supplementation is generally only required when there is not enough calcium in the diet. Supplementation may be done to treat or prevent osteoporosis or rickets. It can also be taken by mouth but is not recommended for injection into a muscle.Side effects when injected include slow heart rate, pain at the site of injection, and low blood pressure. When taken by mouth side effects may include constipation and nausea. Blood calcium levels should be measured when used and extra care should be taken in those with a history of kidney stones. At normal doses, use is regarded as safe in pregnancy and breastfeeding. Calcium gluconate is made by mixing gluconic acid with calcium carbonate or calcium hydroxide.Calcium gluconate came into medical use in the 1920s. It is on the World Health Organizations List of Essential Medicines. Calcium gluconate is available as a generic medication. Production
Medical uses
Low blood calcium
10% calcium gluconate solution (given intravenously) is the form of calcium most widely used in the treatment of low blood calcium. This form of calcium is not as well absorbed as calcium lactate, and it only contains 0.93% (930 mg/dL) calcium ion (defined by 1 g weight solute in 100 mL of solution to make 1% solution w/v). Therefore, if the hypocalcemia is acute and severe, calcium chloride is given instead.