title: Liver transplant in a case of arthrogryposis-renal tubular dysfunction-cholestasis syndrome with severe intractable pruritus.
abstract: Arthrogryposis-renal tubular dysfunction-cholestasis syndrome (MIM No. 208085) is a rare multisystem disorder involving the liver, kidney, skin, and central nervous and musculoskeletal systems. The syndrome is an autosomal-recessive trait, associated with germ-line mutations in the VPS33B gene. We report an Iranian boy of consanguineous cousin parents who had congenital deformities of the upper and lower extremities, severe ichthyosis, cholestasis, intractable pruritus, metabolic acidosis, and failure to thrive. Owing to cholestasis, severe intractable pruritus, and poor quality of life, he underwent a living-related liver transplant from his mother, and his ichthyosis and pruritus dramatically improved. To the best of our knowledge, this is a first case of someone with arthrogryposis-renal tubular dysfunction-cholestasis syndrome who underwent a liver transplant and is in good condition more than 5 years after surgery.
authors.affiliation: Shiraz Transplant Research Center, Nemazee Teaching Hospital, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran. dehghanism@sums.ac.ir
authors.forename: Seyed Mohsen
authors.initials: SM
authors.lastname: Dehghani
authors.forename: Ali
authors.initials: A
authors.lastname: Bahador
authors.forename: Saman
authors.initials: S
authors.lastname: Nikeghbalian
authors.forename: Heshmatollah
authors.initials: H
authors.lastname: Salahi
authors.forename: Bita
authors.initials: B
authors.lastname: Geramizadeh
authors.forename: Abdorrasoul
authors.initials: A
authors.lastname: Malekpour
authors.forename: Seyed Ali
authors.initials: SA
authors.lastname: Malek-Hosseini
mesh_terms: D001176:Arthrogryposis / Q000175:diagnosis / Q000235:genetics / Q000601:surgery*; D002648:Child; D002779:Cholestasis / Q000175:diagnosis / Q000235:genetics / Q000601:surgery*; D020022:Genetic Predisposition to Disease; D006801:Humans; D007166:Immunosuppressive Agents / Q000627:therapeutic use; D016031:Liver Transplantation; D019520:Living Donors; D008297:Male; D010641:Phenotype; D011537:Pruritus / Q000175:diagnosis / Q000235:genetics / Q000601:surgery*; D011788:Quality of Life; D051437:Renal Insufficiency / Q000175:diagnosis / Q000235:genetics / Q000601:surgery*; D012720:Severity of Illness Index; D016896:Treatment Outcome; D033921:Vesicular Transport Proteins / Q000235:genetics
chemical_list: D007166:Immunosuppressive Agents; C411584:VPS33B protein, human; D033921:Vesicular Transport Proteins