New gene found for a severe form of kidney disease

The finding of the gene for a severe form of kidney disease

Your Windows of Hope team has discovered a new mutant gene that causes a tragic neonatal kidney disease. This mutation causes the kidneys to develop large cysts that destroys their normal function which in turn leads to underdevelopment of the lungs.  As a result, infants are born prematurely with a low birth weight and survive only several hours or a few days (for general information see 'polycystic kidney disease').  This is a recessive disease and, since the parents are carriers, there is a  25% risk to future pregnancies (see 'Modes of Inheritance').

Discovery of this mutation is important because we have been able to show that a single gene was responsible for the condition in most of the cases studied, and there is now the potential to offer a gene test that can determine the risk for future parents. These findings also clarify the diagnosis of the condiition and show that the children in fact suffered from a form of ‘nephronophthisis’, which is a group of cystic kidney disorders which are usually associated with progressive renal failure in adolescents and young adults. Although other mutations for this condition have been shown before, this was the first finding of such severe disease associated with mutation of the gene. This work will appear shortly in the scientific Journal the ‘American Journal of Kidney Diseases’.

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