A new aberration in the VPS33B gene - a description of the familial occurrence of ARCS1 syndrome

Olga Adamczyk-Gruszka; Mariola Głowacka; Jakub Gruszka; Maciej Kłosowski; Anna Zwierzyńska

doi:10.19251/pwod/2024.4(2)

eISSN: 2544-2538
ISSN: 2450-8624

Pielęgniarstwo w Opiece Długoterminowej / Long-Term Care Nursing

Current issue Archive About the journal Editorial board Reviewers Abstracting and indexing Contact Instructions for authors Publication charge Ethical standards and procedures

Editorial System

Submit your Manuscript

Editorial Policies

Sarajevo Declaration on Integrity and Visibility of Scholarly Publications

4/2024
vol. 9

Send email

Copy url:

abstract:

Original paper

A new aberration in the VPS33B gene - a description of the familial occurrence of ARCS1 syndrome

Olga Adamczyk-Gruszka

¹

,

Mariola Głowacka

²

,

Jakub Gruszka

³

,

Maciej Kłosowski

⁴

,

Anna Zwierzyńska

⁵

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

DOI: https://doi.org/10.19251/pwod/2024.4(2)

Online publish date: 2025/01/04

View full text Get citation

PlumX metrics:

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:

A new aberration in the VPS33B gene - a description of the familial occurrence of ARCS1 syndrome

Olga Adamczyk-Gruszka 1 , Mariola Głowacka 2 , Jakub Gruszka 3 , Maciej Kłosowski 4 , Anna Zwierzyńska 5

ARCS1, arthrogryposis, renal dysfunction syndrome, cholestasis, VPS33B protein

Olga Adamczyk-Gruszka

¹

,

Mariola Głowacka

²

,

Jakub Gruszka

³

,

Maciej Kłosowski

⁴

,

Anna Zwierzyńska

⁵