title: [WILSON-KONOVALOV'S DISEASE IN TWO SISTERS: DIFFERENCES IN THE CLINICAL PICTURE AND SUCCESSFUL THERAPY].
abstract: Wilson-Konovalov's disease is a rare genetic pathology of copper metabolism that in the first place affects liver and CNS. Due to autosomal-recessive inheritance of this condition, it most frequently occurs in sibs. We report a case of Wilson-Konovalov's disease in two sisters differing in its clinical course: severe abdominal variant in the younger sister and largely neurologic form in the elder one. This observation demonstrates clinical variability of Wilson-Konovalov's disease, the possibility of its late clinical manifestation (at the age 45 years), the necessity of examination of all sibs of a proband regardless of age, and the possibility of radical improvement of prognosis even when the disease is diagnosed at the stage of decompensated liver cirrhosis.
authors.forename: T M
authors.initials: TM
authors.lastname: Ignatova
authors.lastname: Solov'eva O V
authors.forename: E A
authors.initials: EA
authors.lastname: Arion
authors.forename: M S
authors.initials: MS
authors.lastname: Balashova
authors.forename: T P
authors.initials: TP
authors.lastname: Rozina
mesh_terms: D000251:Adenosine Triphosphatases / Q000032:analysis; D000328:Adult; D001921:Brain / Q000473:pathology / Q000503:physiopathology; D027682:Cation Transport Proteins / Q000032:analysis; D002614:Chelating Agents / Q000008:administration & dosage / Q000009:adverse effects; D003300:Copper / Q000378:metabolism*; D000073840:Copper-Transporting ATPases; D003941:Diagnostic Techniques, Ophthalmological; D005260:Female; D006527:Hepatolenticular Degeneration / Q000175:diagnosis / Q000188:drug therapy / Q000378:metabolism / Q000503:physiopathology; D006801:Humans; D008099:Liver / Q000473:pathology / Q000503:physiopathology; D008875:Middle Aged; D010396:Penicillamine / Q000008:administration & dosage / Q000009:adverse effects; D035781:Siblings; D016896:Treatment Outcome
chemical_list: D027682:Cation Transport Proteins; D002614:Chelating Agents; D003300:Copper; D000251:Adenosine Triphosphatases; D000073840:Copper-Transporting ATPases; D010396:Penicillamine