DIRECT HYPERBILIRUBINEMIA AND RENAL-FAILU RE IN A NEWBORN-INFANT - ANUNUSUAL VARIANT OF THE JEUNE-SYNDROME

Asphyxiating thoracic dysplasia (Jeune-syndrome) is an autosomal inher ited disease which is characterized by bone dysplasia, renal and hepat ic malformations of various expressivity. Newborns who have serious th oracic dysplasia with associated lung hypoplasia normally die during t he neonatal period. Patients without signs of pulmonary defects may de velop progressive renal failure due to an interstitial fibrosis. In ad dition, liver- and pancreas fibroses are found. We recently observed t he great variability of clinical manifestion in two patients with Jeun e-syndrome. The first patient, a mature male newborn infant, presented early signs of respiratory disease and, more interestingly, had high serum levels of 5.1 mg/dl conjugated bilirubin at day 1; the maximal b ilirubin-concentration was 26.5 mg/dl at day 9. Additionally, he devel oped progressive renal failure (maximal serum creatinin: 2.7 mg/dl at day 13). The patient eventually died of respiratory failure. To our kn owledge such an early onset of severe hepato-renal manifestation has n ot been observed in patients with this disorder. A second term newborn infant with typical radiological signs of Jeune-syndrome and severe l ung hypoplasia died within hours after birth. No hepato-renal defects could be documented in this patient.