Management dilemmas in patients with hereditary renal adysplasia.
We report a neonatal case of right renal aplasia with left dysplastic kidney and mild pulmonary hypoplasia. The respiratory insufficiency gradually improved on high frequency oscillation and conventional ventilation. Severe hypotension necessitated the use of inotrops. Anuria and electrolyte imbalances were managed by peritoneal dialysis. At age 13 days the baby had a small bowel perforation, developed septic shock and, after discussion with the multi-disciplinary team and the family, inotropic support was withdrawn and the baby died. The family history revealed the father had a newborn from a previous marriage who died secondary to bilateral renal agenesis. Renal studies in the father showed agenesis of the kidney with normal renal functions suggesting the diagnosis of hereditary renal adysplasia, an autosomal dominant condition with variable expression. This case illustrates the importance of renal ultrasound of the parents and siblings of affected newborns with structural kidney anomalies. A general consensus is lacking as to which infants with bilateral renal adysplasia should be aggressively treated.
Human Genetics Program, Hayward Genetics Center, Tulane University School of Medicine, New Orleans, Louisiana, USA.
E
E
Morava
C
C
Smith
M
M
Pierce
H C
HC
Andersson
D000015:Abnormalities, Multiple / Q000235:genetics; D019066:Facies; D017809:Fatal Outcome; D006801:Humans; D007231:Infant, Newborn; D007668:Kidney / Q000002:abnormalities*; D007674:Kidney Diseases / Q000235:genetics; D008168:Lung / Q000002:abnormalities; D008297:Male