Prevalence of congenital adrenal hyperplasia in Kuwait.

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.

Familial hypophosphataemic rickets: experience with 24 children from Kuwait.

Between 1982 and 1988, familial hypophosphataemic rickets (FHR) was diagnosed in 24 children, in nine during screening of the families of index patients. The average annual incidence was 0.2/1000 live births. There were 16 boys and 8 girls in 10 families, of which nine had more than one affected child. Their ages at the onset of the disease ranged between 10 months and 14 years (mean 6.9 yrs). Growth retardation and bowing of the legs were the most prominent features, observed in all index patients and in four of the patients diagnosed by screening. Treatment with 1 alpha-hydroxyvitamin D3 and phosphates was associated with acceleration of growth in all children, healing of rickets in 21, and normalization of the serum phosphate in 22. Two children with late diagnosis are now older than 16 years with a final height below the 3rd centile. Three more pubertal children are also shorter than the 3rd centile. In areas where nutritional rickets is common, FHR is likely to be missed and the treatment delayed with grave consequences; in particular, growth retardation and bone deformity.

Vitamin-D-deficiency rickets in Kuwait: the prevalence of a preventable disease.

Two hundred and fifty children with clinical, biochemical and radiological evidence of vitamin-D-deficiency rickets were studied over a period of 5 years. Their ages ranged from 1 month to 2 years. Breastfed infants formed 63% of total cases. Intramuscular therapy with vitamin D in a dose of 600,000 IU, deep intramuscular, proved to be safe and effective. In contrast, oral vitamin D did not provide such satisfactory results, presumably owing to poor patient/parental compliance. This report reveals that vitamin-D-deficieny rickets is common in Kuwait in spite of abundant sunlight all through the year because children are wrapped up and kept indoors. Insufficient intake of vitamin D is another important factor in the pathogenesis of vitamin-D-deficiency rickets in Kuwait.

Pattern of urolithiasis in a general hospital. A prospective study.

Judging from the abundance of papers published in the medical journals there appears to be a global increase in the incidence of urolithiasis. Urinary excretion of various stone-forming salts in a 24-hour urine specimen is the mainstay of the metabolic workup done in stone-formers. According to the findings patients have been classified into neat categories depending on whether they were hypercalciuric, hyperuricosuric, etc. As a group their excretion of calcium, oxalate, and urate was not different from the controls. However, they excreted significantly more phosphate and had lower 24-hour urine volumes than the controls.

Aminoacidopathies: a review of 3 years experience of investigations in a Kuwait hospital.

We present a summary of the results of quantitative amino acid analysis in 800 subjects over a three-year period in Al-Sabah Hospital, Kuwait. Thirty-five patients with aminoacidopathy were identified, all but two of whom were the offspring of first-degree consanguineous marriages: nine cases of phenylketonuria, one benign hyperphenylalaninaemia, seven non-ketotic hyperglycinaemia, five tyrosinaemia, five homocystinuria, four citrullinaemia, two cystinuria, one hyperprolinaemia, and one maple syrup urine disease. The clinical and biochemical findings in these cases are described.

Interaction of ethanol with amylobarbitone, phenobarbitone and methaqualone.

The presence and mechanism of synergism of action between ethanol and amylobarbitone, phenobarbitone or methaqualone was determined by application of simple pharmacokinetic models to log dose-response curves and plasma concentration-time curves for the hypnotics alone or when ethanol was given concurrently. For all three hypnotics, ethanol was found to increase the duration of hypnosis, but the mechanism of action was different for each. A sub-hypnotic dose of ethanol increased the volume of distribution of amylobarbitone and the consequent reduction in fractional elimination prolonged the half-life of the hypnotic. The distribution and elimination of methaqualone were not affected by ethanol, but there was a sensitisation of the target organ, shown by a reduced minimum effective dose. The minimum effective dose of phenobarbitone was also reduced by ethanol, but in addition, the rate of elimination of phenobarbitone was increased after the period of hypnosis.

Enzyme multiplied immunoassay of phenobarbital by LKB reaction Rate Analyser: a comparison with analysis by gas-liquid chromatography.

A procedure for the enzyme multiplied immunoassay of phenobarbital using the LKB Reaction Rate Analyser is described. The temperature optimum, linearity, specificity, and precision of the assay are reported. A highly significant correlation coefficient is obtained when the technique is compared with gas-liquid chromatography by analysing human sera containing a range of phenobarbital levels.