FETAL POLYCYSTIC KIDNEY-DISEASE ASSOCIATED WITH GLUTARIC ACIDURIA TYPE-II - AN INBORN ERROR OF ENERGY-METABOLISM

The findings of hyperechoic and enlarged fetal kidneys on routine ante natal ultrasonography is a non-specific finding that alerts the physic ian to a differential diagnosis of various genetic and non-genetic dis orders, including fetal polycystic disease and Beckwith-Wiedeman syndr ome. Detection of fetal or neonatal polycystic kidneys should alert th e physician to the possibility of an associated lethal autosomal reces sive inborn error of fatty acid metabolism known as multiple acyl-CoA- dehydrogenase defect (MADD). We report a case of fetal nephromegaly as sociated with rare inborn error of MADD. This case highlights the need for appropriate laboratory investigation of hyperechoic, enlarged fet al kidneys, and neonatal polycystic disease. The association of MADD w ith postnatally diagnosed polycystic disease of the kidney has been re ported. The antenatal detection of nephromegaly followed by the subseq uent postnatal diagnosis of MADD has not been previously reported. MAD D should be considered in the differential diagnosis of this antenatal finding. Appropriate diagnostic procedures should be conducted, eithe r pre- or postnatally, in order that appropriate genetic counseling ma y be provided for this autosomal recessively inherited disorder.