Autoszomális recesszív
Caused by loss of function of both copies of VPS33B, a gene involved in sorting proteins inside cells, which affects liver, kidney and platelet function.
Tünetek és jelek
Babies have joint contractures from birth, jaundice from cholestasis, and kidney problems. Some have platelet problems. Early death can occur.
Mit változtat a diagnózis
Care is supportive, with nutrition, fat-soluble vitamin and fluid and salt replacement, and management of itch and infection. Carrier testing of relatives and genetic counselling are available, along with options for testing in future pregnancies.
Vizsgált gének
Más néven
ARCS1; arthrogryposis-renal dysfunction-cholestasis syndrome caused by mutation in VPS33B; VPS33B arthrogryposis-renal dysfunction-cholestasis syndrome; VPS33B-related arthrogryposis, renal dysfunction, and cholestasis
