[Renal tubular dysgenesis with fetal renal vein thrombosis].
Renal tubular dysgenesis is a rarely recognized condition characterized by oligohydramnios, Potter's sequence and congenital anuria leading to stillbirth or neonatal death from respiratory failure. It is thought to be inherited in an autosomal recessive manner. Definitive diagnosis is based on renal histology, revealing the lack of proximal tubule differentiation. Two additional cases of affected sibs in a family with parental consanguinity are reported. Lectin and immunohistochemical studies confirmed structural and functional immaturity of the proximal tubule. Further findings include bilateral renal vein thrombosis. The clinical and morphological parameters defining this disorder and the possible mechanisms of pathogenesis are discussed.
Ortmann
M
M
Institut für Pathologie der Universität zu Köln.
Querfeld
U
U
Stollorz
M
M
Schröder
R
R
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology; D001002:Anuria / Q000235:genetics* / Q000473:pathology; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D003241:Consanguinity; D003937:Diagnosis, Differential; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007231:Infant, Newborn; D007687:Kidney Tubules, Proximal / Q000002:abnormalities* / Q000473:pathology; D010641:Phenotype; D011247:Pregnancy; D012082:Renal Veins / Q000002:abnormalities* / Q000473:pathology; D013577:Syndrome; D013927:Thrombosis / Q000235:genetics* / Q000473:pathology
Renale tubuläre Dysgenesie mit fetaler Nierenvenenthrombose.