Sensenbrenner syndrome: a new member of the hepatorenal fibrocystic family.
Cranioectodermal dysplasia (CED, Sensenbrenner syndrome; OMIM #218330) is an autosomal recessive disorder reported only in 15 cases, which is characterized by dolichocephaly, rhizomelic dwarfism, dental and nail dysplasia, and progressive tubulo-interstitial nephritis (TIN) leading to end-stage renal failure. Herein, we describe a new patient with cranio-ectodermal dysplasia. Unlike previously reported cases, this 4-year-old child presented with tubulo-interstitial nephropathy associated with liver cystic disease and elevated liver enzymes. The liver biopsy demonstrated congenital hepatic fibrosis secondary to ductal plate malformation. The coexistence of a chronic tubulo-interstitial renal disease with lesions associated to malformations of the hepatic ductal plate indicates that CED as a new member of the congenital hepatorenal fibrocystic syndromes.
Zaffanello
Marco
M
Department of Nephrology and Urology, Division of Nephrology and Dialysis, Children's Hospital and Research Institute Bambino Gesu', Rome, Italy.
Diomedi-Camassei
Francesca
F
Melzi
Maria Luisa
ML
Torre
Giuliano
G
Callea
Francesco
F
Emma
Francesco
F
D000015:Abnormalities, Multiple / Q000235:genetics*; D002675:Child, Preschool; D019465:Craniofacial Abnormalities / Q000235:genetics*; D004476:Ectodermal Dysplasia / Q000235:genetics*; D005808:Genes, Recessive; D006801:Humans; D007668:Kidney / Q000002:abnormalities*; D008099:Liver / Q000002:abnormalities* / Q000473:pathology; D008297:Male; D009395:Nephritis, Interstitial / Q000235:genetics; D013577:Syndrome