Abstract
4/2024
vol. 9
Original paper
A new aberration in the VPS33B gene - a description of the familial occurrence of ARCS1 syndrome
- Katedra Ginekologii i Położnictwa, Collegium Medicum, Uniwersytet Jana Kochanowskiego w Kielcach, Polska
- Collegium Medicum, Wydział Nauk o Zdrowiu. Katedra Zintegrowanej Opieki Medycznej, Zakład Pielęgniarstwa, Akademia Mazowiecka w Płocku, Polska
- II Katedra i Klinika Położnictwa i Ginekologii, Wydział Lekarski, Warszawski Uniwersytet Medyczny, Polska
- Katedra Geriatrii, Zakład Biochemii i Biogerontologii Collegium Medicum im. L. Rydygiera w Bydgoszczy Uniwersytet Mikołaja Kopernika w Toruniu
- Collegium Medicum, Uniwersytet Jana Kochanowskiego, Kielce, Polska
Long-Term Care Nursing 2024; 9 (4): 14-20
Online publish date: 2025/01/04
ARCS1 -arthrogryposis is an autosomal recessive multisystem disorder. The disease affects the liver, kidneys, skin, central nervous system, musculoskeletal system. It is the result of mutations in the genes VPS33B (Vacuolar protein sorting 33 homolog B) on chromosome 15q26.1 - 75% of cases) and VIPAR (VPS33B interacting protein, apical-basolateral polarity regulator - 25% of cases). Prevalence is not exactly known. About 100 cases have been described so far. The syndrome has no curative therapy and the prognosis is poor. Patients usually die before 7 months of age due to recurrent infections, severe dehydration, metabolic acidosis, or internal hemorrhage.
Keywords
ARCS1, arthrogryposis, renal dysfunction syndrome, cholestasis, VPS33B protein
Integrated with
