Bartter's syndrome in Arabic children: review of 13 cases.

BACKGROUND: Bartter's syndrome (BS) is an inherited disease of renal potassium wasting characterized by hypokalemic alkalosis, normal blood pressure, vascular insensitivity to pressor agents and elevated plasma concentrations of renin and aldosterone. It is caused by generalized hyperplasia of the juxtaglomerular apparatus at the site of renin production caused by mutations in the Na-K-2Cl cotransporter gene, NKCC2. The objective of our study is to establish the prevalence and incidence of BS in Kuwait and to assess treatment modalities for it. METHODS AND RESULTS: Bartter's syndrome was diagnosed in 13 Kuwaiti children over a 14 year period (1981-1995) with the estimated incidence of 1.7/100,000 live births. The mean age at diagnosis was 9.3 months (range 2-32 months). There were five males and eight females (ratio 1:1.6). The mean duration of follow up was 5.6 years (1-14 years). Both consanguinity and familial history among our patients were high (69 and 54%, respectively). All patients had hypokalemia, hypochloremia with metabolic alkalosis, hyperreninemia and were normotensive. Clinical presentation was essentially similar to that in other series. Eleven patients (85%) had growth failure, two had nephrocalcinosis (15%) and one had renal failure. All patients were treated with supplemental potassium, an aldosterone antagonist (spironolactone) and a prostaglandin synthetase inhibitor (indomethacin or aspirin) sequentially. Significant catch-up of growth (four patients) and increases in serum potassium (eight patients) were recorded after administration of indomethacin therapy. One patient died of severe pneumonia with respiratory failure from hypokalemic myopathy. Clinical presentation, inheritance, complications and therapy of BS are briefly discussed. CONCLUSION: Bartter's syndrome is a rare disease, but should be considered in the differential diagnosis of other disorders with growth failure and/or hypokalemia. Early diagnosis, close follow up and compliance with treatment may lead to appropriate growth and development.

Autosomal recessive osteopetrosis in Arab children.

Nineteen Arab children including six boys and 13 girls in ten sibships were diagnosed as having osteopetrosis over a 5-year period in various hospitals in Kuwait. Eighteen patients had an isolated autosomal recessive form and one had autosomal recessive osteopetrosis associated with renal tubular acidosis. The mean age of diagnosis was 24 months. Parental consanguinity was high amongst them (68%). Anaemia, hepatosplenomegaly, failure to thrive, recurrent infections and neurological manifestations were common. Associated congenital abnormalities were found in 26%. Deafness, hydrocephalus and dental caries were relatively less common. A high mortality (37%) owing to infection was noted. The medical management and recommendations for patient care are discussed briefly.

Henoch Schönlein purpura in Arab children. Analysis of 52 cases.

Over a period of 6 years (October 1981 through September 1987) 52 Arab children with Henoch Schönlein purpura were studied retrospectively. The annual incidence was estimated to be 6.7/100,000 children under the age of 12 years. The mean age at onset was 5.6 years, and in a mean follow-up period of three years, there was no mortality; three children developed intussusception and one child developed chronic renal failure and progressed to end stage kidney disease. The clinical profile of the disease was essentially similar to other reports. However, unusual features observed in this study included the development of the disease following herpes virus infection in two patients, the involvement of the temporo-mandibular joint in one and bullous lesions in another. The additional distribution of the typical rash over the flexor surface of the lower limbs in our patients was not reported before.

Kenny-Caffey syndrome. Case report and literature review.

Kenny-Caffey Syndrome is a rare syndrome characterized by growth retardation, uniformly small slender long bones with medullary stenosis, thickened cortex of the long bones, hypocalcemia possibly with tetany at an early age, hyperphosphatemia, ocular abnormalities, and normal intelligence. We report a child with Kenny-Caffey Syndrome and idiopathic hypoparathyroidism and present a review of the literature summarizing the reported cases of this rare syndrome.