Arthrogryposis, Renal Dysfunction and Cholestasis 2
Autoszomális recesszív
Caused by changes in both copies of VIPAS39. Changes in VPS33B cause the same syndrome, and the condition affects the liver, kidneys, skin and platelets.
Tünetek és jelek
Joint contractures at birth, jaundice from cholestasis with a characteristically normal GGT level, and renal tubular dysfunction (a leak of substances into the urine). Poor growth, dry scaly skin and platelet dysfunction have been reported. The condition is usually severe, and most reported patients died in the first 6 months of life, although milder courses with survival into adolescence have been reported.
Mit változtat a diagnózis
Care is supportive, with nutrition, correction of salt and acid losses, treatment of itching and jaundice (ursodeoxycholic acid helped one reported patient), and attention to bleeding risk. Genetic testing is valuable, especially in atypical presentations. Genetic counselling explains the recessive inheritance, and carrier and prenatal testing are available for families.
Vizsgált gének
Más néven
ARCS2; arthrogryposis-renal dysfunction-cholestasis syndrome caused by mutation in VIPAS39; VIPAS39 arthrogryposis-renal dysfunction-cholestasis syndrome; VIPAS39-related arthrogryposis, renal dysfunction, and cholestasis
