[Familial liver cirrhosis in pseudohypoparathyroidism in young children (author's transl)].
Two sisters whose mother had pseudo-pseudohypoparathyroidism, simultaneously developed in infancy pseudohypoparathyroidism with severe liver damage leading to cirrhosis and characterised by "ectoplasmic vacuoles", as well as severe anaemia and thrombocytopenia. As any known metabolic or inflammatory liver disease could largely be excluded, a common genetic defect is assumed as the cause of the combined disorder in calcium and hepatic metabolism.
D000740:Anemia / Q000150:complications; D001706:Biopsy; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D008099:Liver / Q000648:ultrastructure; D008103:Liver Cirrhosis / Q000150:complications / Q000235:genetics* / Q000473:pathology; D011547:Pseudohypoparathyroidism / Q000150:complications* / Q000473:pathology; D013921:Thrombocytopenia / Q000150:complications
Familiäre Leberzirrhose bei frühkindlichem pseudohypoparathyreoidismus.