Genetic kidney diseases (GKDs) are an important and well-known entity in pediatric nephrology. In the past decade advances in genetic and molecular approaches have enabled elucidation of the underlying molecular defects in many of these disorders. Herein we summarize the progress that has been made over the past decade in disclosing the molecular basis of several novel GKDs, which were characterized in our area and include Bartter syndrome type IV, type II Bartter syndrome and transient neonatal hyperkalemia, cystinuria and mental retardation, familial hypomagnesemia with secondary hypocalcemia, infantile nephronophthisis, familial hemolytic uremic syndrome with factor H deficiency, and non-cystic autosomal dominant nephropathy. Retrospective analysis of our data reveals that GKDs are over-represented among the pediatric population in southern Israel. GKDs are seen four-times more often than end-stage renal disease (ESRD) and comprise 38% of all cases of ESRD in our area. This high rate of GKDs is mainly due to the high frequency of consanguineous marriages that prevails in this area. Understanding of the genetic and molecular background of these diseases is a result of a fruitful collaboration between the pediatric nephrologists and scientists, and has a direct implication on the diagnosis and treatment of the affected families.
- Bartter syndrome
- Familial hemolytic uremic syndrome
- Familial hypomagnesemia
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health