The rising incidence of type 1 diabetes mellitus and the role of environmental factors--three decade experience in a primary care health center in Saudi Arabia.

BACKGROUND: The incidence of type 1 diabetes has been increasing all over the world including Saudi Arabia and environmental factors have been suggested to play an important role in its etiology. OBJECTIVE: The aim of this study was to evaluate if there are any contributory roles of various environmental factors in the rising incidence of type 1 diabetes in children in the Eastern Province of Saudi Arabia. METHODS: We conducted a retrospective study of Saudi Arab subjects (n = 119) diagnosed between 1980 and 2009 with type 1 diabetes and these subjects were classified to six groups on the basis of the onset of diabetes. RESULTS: 119 subjects (61 boys and 58 girls) with confirmed diagnosis of type 1 diabetes met the study eligibility criteria. 89 children (74%) presented with ketoacidosis. The mean age of onset was 4 3/4 years for Group II and age of onset increased to above 8 years on subsequent years. Excessive weight gain was noted in all study groups. No etiological influences of maternal age at birth, birth order, birth weight, early introduction of cow's milk and cereals, infections and vaccines as well as nitrate levels in drinking water were noted in any of the groups. The predicted doubling of diabetes in young children below 5 years as in previous studies was not found in our study. CONCLUSIONS: The rising incidence of type 1 diabetes over the last 30 years is not proved to have been influenced by various environmental factors.

Clinical spectrum of Bardet-Biedl syndrome among four Saudi Arabian families.

Bardet-Biedl syndrome is an autosomal recessive disorder characterized by rod-cone dystrophy, postaxial polydactyly, obesity, hypogenitalism, mental retardation, and renal dysfunction. It has both interfamilial and intrafamilial clinical variation. We have studied the clinical spectrum of 11 Saudi Arabian patients from four consanguineous families. Postaxial polydactyly was seen in eight individuals and rod-cone dystrophy in almost all patients. Night blindness and diminished visual acuity manifested at varying ages, beginning as early as 36 months. Obesity was found to be common. Renal anomalies were detected in eight patients (72%) and two of them developed end-stage renal failure at 14 and 15 years of age. We also found an increased prevalence of Hirschsprung's disease among these patients. Hypogenitalism was manifested as micropenis in males and delayed sexual maturation in females. Heart defects were uncommon in our series. In contrast, there was increased susceptibility to develop diabetes mellitus and two of our patients developed diabetes at 15 and 22 years of age.

Hydrometrocolpos and acute renal failure: a rare neonatal presentation of Bardet-Biedl syndrome.

The presence of hydrometrocolpos and postaxial polydactyly in a neonate can be caused by two genetic conditions; namely, McKusick-Kaufman syndrome and Bardet-Biedl syndrome. There are no distinct clinical features that allow discrimination between the two syndromes, as the cardinal features of rod-cone dystrophy, obesity, learning disability and renal dysfunction in Bardet-Biedl syndrome are age dependent. McKusick-Kaufman syndrome is characterized by vaginal atresia with hydrometrocolpos, postaxial polydactyly and congenital heart defect. Here we report an unusual presentation of Bardet-Biedl syndrome: a neonate born in a consanguineous family having an older sibling diagnosed with Bardet-Biedl syndrome presenting with postaxial polydactyly and vaginal atresia; the latter causing hydrometrocolpos, hydronephrosis and renal failure. Relief of urinary obstruction by exploratory laparotomy and aspiration of fluid, and vaginal reconstruction gradually reversed the hydronephrosis and renal failure. The patient developed end-stage renal failure towards the end of her first decade, possibly due to underlying renal pathology associated with Bardet-Biedl syndrome.

Persistent hyperinsulinemic hypoglycemia of infancy (PHHI): Long-term outcome following 95% pancreatectomy.

OBJECTIVE: To evaluate the outcome of neonates and infants with persistent hyperinsulinemic hypoglycemia of infancy (PHHI) who had undergone 95% pancreatectomy, with special emphasis on development of diabetes mellitus (DM). METHODS: Ten infants diagnosed according to the established criteria of PHHI, and who had undergone 95% pancreatectomy, were followed for a period ranging from 1-20 years (mean 13(4/12) years). A retrospective analysis of their data was carried out with special emphasis on growth and development, glycemic control, neurological status and school performance. The data on weight, glycemic control and daily insulin requirement were compared with a control group of ten children with type 1 DM (DM1), matched for age and sex. RESULTS: All ten children ultimately developed DM; three of them immediately following pancreatectomy and the remainder after a variable period ranging from 7(1/4)-11(1/2) years (mean: 8(11/12) years). Data on their weight, HbA1c levels and daily insulin requirements when compared to ten children with DM1 showed no statistically significant difference in these biological variables. All the children, with the exception of one who sustained subarachnoid hemorrhage, cerebral edema and seizures in the neonatal period, were neurologically and developmentally normal. None exhibited clinical manifestations of pancreatic exocrine deficiency. CONCLUSION: 95% pancreatectomy is an effective treatment modality in PHHI not responding to medical treatment. In our experience; recurrence of hypoglycemia following surgery is uncommon and responds well to medical treatment. There is a high risk of secondary DM in these children; however, the serious risk of brain damage and neurological abnormalities could be avoided by early surgical intervention. Children in this study did not show any signs or symptoms of malabsorption.