title: Polycystic kidney and hepatic disease with mental retardation and hand anomalies in three siblings.
abstract: A family with three children affected with congenital polycystic kidneys, hepatic fibrosis, mental retardation, minor anomalies of the hands, and dysmorphic facial features is reported. All children progressed to chronic renal failure. Linkage to the locus for autosomal recessive polycystic kidney disease was excluded by haplotype analysis. The family is endogamic, and the affected siblings are of both sexes, which is in agreement with an autosomal recessive determination of this syndrome. A similar syndrome was reported in 1990 by Labrune et al. [J Pediatr Gastroenterol Nutr (1990) 10:540-543]. Our report provides further evidence for the etiological heterogeneity of polycystic kidney with hepatic fibrosis. The syndrome reported here should be considered in the differential diagnosis of the early manifestation of polycystic kidneys. Mental retardation and hand anomalies are the hallmarks for the differential diagnosis of this syndrome.
authors.affiliation: Department of Pediatrics, Second Medical School, University Hospital Motol, Charles University Prague, V Uvalu 84, 15006, Prague, Czech Republic. tomas.seeman@lfmotol.cuni.cz
authors.forename: Tomás
authors.initials: T
authors.lastname: Seeman
authors.forename: Marcela
authors.initials: M
authors.lastname: Malíková
authors.forename: Kveta
authors.initials: K
authors.lastname: Bláhová
authors.forename: Eva
authors.initials: E
authors.lastname: Seemanová
mesh_terms: D000015:Abnormalities, Multiple / Q000503:physiopathology*; D002675:Child, Preschool; D005260:Female; D006228:Hand Deformities, Congenital / Q000503:physiopathology*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000503:physiopathology*; D008107:Liver Diseases / Q000503:physiopathology*; D008297:Male; D010375:Pedigree; D007690:Polycystic Kidney Diseases / Q000503:physiopathology*; D035781:Siblings; D014427:Twins