Epidermolysis bullosa, pyloric atresia, and obstructive uropathy: a report of two case reports with molecular correlation and clinical management.
The epidermolysis bullosa-pyloric atresia-obstructive uropathy (EB-PA-OU) association is a rare, but well-described multisystem disease. While the prognosis at this time is still poor, an increasing number of patients are surviving to adolescence with aggressive care. It is important to understand this syndrome in order to anticipate medical complications and offer preventive strategies where possible. Prompt and expectant management of obstructive uropathy is crucial in these patients. Evidence of ureterovesicular obstruction may require bowel diversion, as excision of the obstructed ureterovesicular junction with reimplantation is often associated with a high risk of reobstruction. Many newborns succumb to sepsis or dehydration and electrolyte imbalance. Those infants who survive need close monitoring for the development of obstructive uropathy, failure to thrive, protein-losing enteropathy, respiratory compromise, and increased susceptibility to invasive infections. Once a clinical diagnosis is made, mutational analysis can confirm it and facilitate genetic counseling, as recurrence risks are 25% for this autosomal recessive condition. Mutational analysis enables direct genetic testing and accurate prenatal diagnosis. As more patients are studied, genotype/phenotype correlations may be possible.
Wallerstein
R
R
Human Genetics Program, Department of Pediatrics, and Department of Radiology, New York University School of Medicine, New York, New York, USA. violetwall@earthlink.net
Klein
M L
ML
Genieser
N
N
Pulkkinen
L
L
Uitto
J
J
D019943:Amino Acid Substitution; D015703:Antigens, CD / Q000235:genetics; D002675:Child, Preschool; D004820:Epidermolysis Bullosa / Q000235:genetics / Q000473:pathology*; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D039663:Integrin beta4; D008297:Male; D009154:Mutation; D011708:Pylorus / Q000002:abnormalities*; D014524:Urethral Obstruction / Q000235:genetics / Q000473:pathology*
D015703:Antigens, CD; D039663:Integrin beta4