Biliary Malformation With Renal Tubular Insufficiency

Lutz-Richner and Landolt (l973) described 2 male sibs with second-cousin parents and an identical syndrome leading to death at the age of about 4 months. Features were extrahepatic and intrahepatic biliary hyperplasia, tubular renal failure with generalized nonspecific amino aciduria, proteinuria, glycosuria and chronic metabolic acidosis, failure to thrive, and predisposition to infections. Mikati et al. (1984) also reported the cases of 2 brothers with proximal renal tubular insufficiency, cholestatic jaundice, predisposition to infection, and multiple congenital anomalies. They presented early in the neonatal period with micrognathia, low-set ears, highly arched palate, barrel chest, bilateral simian creases, clubfeet, hip dislocation, hypotonia, conjugated hyperbilirubinemia, and severe failure to thrive. They died at 2 and 4 months of age. Kidney histology was normal except for calcification of some distal tubules. Immunologic studies suggested a defect in polymorphonuclear cell migration and intracellular killing. This could, of course, be X-linked recessive. The association of renal tubular insufficiency (manifested by proteinuria, hematuria, hyperchloremic acidosis, low tubular reabsorption of phosphate, low specific gravity of urine), arthrogryposis (clubfoot, contractures of hips and knees), and biliary abnormalities (cholestatic jaundice, hepatomegaly) was reported also by Papadia et al. (1996) in 2 brothers born of nonconsanguineous parents. Hepatic scintigraphy in both brothers revealed no evident intra- or extrahepatic bile ducts, consistent with the diagnosis of bile duct atresia. Liver biopsy in 1 brother showed paucity and hypoplasia of the bile ducts; biopsy was not possible in the other brother.