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 antenatal ultrasonography is a non-specific finding that alerts the physician to a differential diagnosis of various genetic and non-genetic disorders, including fetal polycystic disease and Beckwith-Wiedeman syndrome. Detection of fetal or neonatal polycystic kidneys should alert the physician to the possibility of an associated lethal autosomal recessive inborn error of fatty acid metabolism known as multiple acyl-CoA-dehydrogenase defect (MADD). We report a case of fetal nephromegaly associated with rare inborn error of MADD. This case highlights the need for appropriate laboratory investigation of hyperechoic, enlarged fetal kidneys, and neonatal polycystic disease. The association of MADD with postnatally diagnosed polycystic disease of the kidney has been reported. The antenatal detection of nephromegaly followed by the subsequent postnatal diagnosis of MADD has not been previously reported. MADD should be considered in the differential diagnosis of this antenatal finding. Appropriate diagnostic procedures should be conducted, either pre- or postnatally, in order that appropriate genetic counseling may be provided for this autosomal recessively inherited disorder.
Whitfield
J
J
Baylor University Medical Center, Dallas, Texas 75246, USA.
Hurst
D
D
Bennett
M J
MJ
Sherwood
W G
WG
Hogg
R
R
Gonsoulin
W
W
D044944:Acyl-CoA Dehydrogenases / Q000172:deficiency*; D000328:Adult; D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000235:genetics; D003937:Diagnosis, Differential; D005227:Fatty Acids / Q000378:metabolism; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging / Q000235:genetics*; D005808:Genes, Recessive; D005977:Glutarates / Q000652:urine*; D006801:Humans; D007231:Infant, Newborn; D007690:Polycystic Kidney Diseases / Q000000981:diagnostic imaging / Q000235:genetics*; D011247:Pregnancy; D016216:Ultrasonography, Prenatal
D005227:Fatty Acids; D005977:Glutarates; D044944:Acyl-CoA Dehydrogenases