A molecular genetic analysis of childhood nephrotic syndrome in a cohort of Saudi Arabian families.

Nephrotic syndrome (NS) is a renal disease characterized by heavy proteinuria, hypoalbuminemia, edema and hyperlipidemia. Its presentation within the first 3 months of life or in multiple family members suggests an underlying inherited cause. To determine the frequency of inherited NS, 62 cases (representing 49 families with NS) from Saudi Arabia were screened for mutations in NPHS1, NPHS2, LAMB2, PLCE1, CD2AP, MYO1E, WT1, PTPRO and Nei endonuclease VIII-like 1 (NEIL1).

Characterization of CTNS mutations in Arab patients with cystinosis.

Background: Cystinosis is an autosomal recessive disease characterized by impaired transport of free cystine out of lysosomes with resulting renal and ophthalmic manifestations. Mutations in CTNS, encoding cystinosin, are the only known cause of this autosomal recessive disorder with more than 85 different mutations described so far.

Purpose: To identify CTNS mutations in Arab cystinosis patients.

Post renal transplantation tubulopathies in children: a 9-year experience at a tertiary care centre.

To evaluate the incidence of tubulopathies in the long-term follow-up of children post renal transplantation, we reviewed the records of 43 patients from 1987-1996. There were 24 (56%) boys. The age of patients at the time of transplant ranged from 2.

Novel mutations underlying nephrogenic diabetes insipidus in Arab families.

Purpose: Nephrogenic Diabetes Insipidus (NDI) is genetically heterogeneous and may be inherited in an X-linked or autosomal recessive manner. We aimed to investigate the molecular basis of NDI among Arab families.

Methods: Direct sequencing of coding regions for AQP2 and AVPR2 was used to identify underlying mutations.

Long-term follow up of carbonic anhydrase II deficiency syndrome.

Objective: To describe the long term clinical, biochemical and radiological features of 35 Saudi Arabian children with carbonic anhydrase II deficiency syndrome who have been followed at King Faisal Specialist Hospital and Research Center, Riyadh since 1979.

Methods: The records of these patients were retrospectively evaluated. The diagnosis was based on the clinical and the radiological evidence of the disease.