RESUMEN
Between 1978 and 1988 congenital adrenal hyperplasia (CAH) was diagnosed in 60 children in Kuwait with an estimated prevalence of 1:9,000 livebirths, which is higher than that reported from Europe and Canada. In addition, there was presumptive evidence of CAH resulting in the death of 20 other children, giving a prevalence figure of 1:7000. There were 41 girls (68%) and 19 boys (32%). Thirty-one of the girls (75.6%) and 11 of the boys (57.9%) were saltlosers. Fifty-four patients (90%) were diagnosed as 21-hydroxylase deficient, 3 patients (5%) had a deficiency of the 3 beta-hydroxy-steroid dehydrogenase enzyme, and 3 patients (5%) showed a deficiency of 11 beta-hydroxylase.
Asunto(s)
Hiperplasia Suprarrenal Congénita/epidemiología , Esteroide Hidroxilasas/deficiencia , Hiperplasia Suprarrenal Congénita/mortalidad , Hiperplasia Suprarrenal Congénita/fisiopatología , Canadá/epidemiología , Niño , Europa (Continente)/epidemiología , Femenino , Humanos , Kuwait/epidemiología , Masculino , Prevalencia , Estados Unidos/epidemiologíaRESUMEN
Congenital chloride diarrhoea was diagnosed in 16 Kuwaiti children over a 7 year period (1980-1986) with an estimated incidence of 7.6 per 100,000 live births. The mean age at diagnosis was 3.2 months (range 1 week to 5 months). There were 9 boys and 7 girls with a mean age of 3 years 10 months (range 10 months to 7 years). All children had a shortened gestational period, abdominal distension and chronic diarrhoea. The serum electrolytes in all patients prior to treatment showed hyponatraemia, hypokalaemia, hypochloraemia and metabolic alkalosis. The diagnosis was confirmed by a stool chloride content that exceeded the sum of faecal sodium and potassium. Fifteen patients survived and showed catch-up growth with adequate replacement therapy and 1 died with renal failure.