Arthrogryposis, Renal Dysfunction, Cholestasis Syndrome with Scalp Hypotrichosis
نویسندگان
چکیده
منابع مشابه
Glomerular involvement in the arthrogryposis, renal dysfunction and cholestasis syndrome
BACKGROUND Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome is a multisystem autosomal-recessive disorder caused by defects in the VPS33B and VIPAR genes, involved in localization of apical membrane proteins. Affected children usually die by 1 year of age, often secondary to infective complications. The classic renal manifestation previously described in ARC syndrome is proximal...
متن کاملArthrogryposis multiplex congenita, renal dysfunction, and cholestasis syndrome.
everyone involved in counselling them has to be sensitive to their beliefs and adherence to Islam. To our knowledge, HD has not been previously recorded in Saudi Arabia, nor in Af-ghanistan. Although European ancestry was not reported in any family, the disease gene could well have been introduced to them in the last century by foreigners visiting Red Sea or Arabian Gulf ports and, in the case ...
متن کاملArthrogryposis-renal tubular dysfunction-cholestasis syndrome: a cause of neonatal cholestasis. Case report.
Arthrogryposis-renal dysfunction-cholestasis syndrome is a rare lethal disorder that involves multipl organ system. It is inherited autosomal recessive and caused by defects in the VPS33B and VIPAR genes. Three cardinal findings of this syndrome are arthrogryposis, renal tubular dysfunction and cholestasis.The other organ involvements including ichthyosis, central nervous system malformation, p...
متن کاملLiver transplant in a case of arthrogryposis-renal tubular dysfunction-cholestasis syndrome with severe intractable pruritus.
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...
متن کاملArthrogryposis–renal dysfunction–cholestasis (ARC) syndrome: from molecular genetics to clinical features
UNLABELLED Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome is a rare but fatal autosomal recessive multisystem disorder caused by mutations in the VPS33B or VIPAR gene. The classical presentation of ARC includes congenital joint contractures, renal tubular dysfunction, and cholestasis. Additional features include ichthyosis, central nervous system malformation, platelet anomalies, a...
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ژورنال
عنوان ژورنال: Journal of Case Reports
سال: 2016
ISSN: 2231-6809
DOI: 10.17659/01.2016.0089