Background: ARC (arthrogryposis, renal dysfunction, cholestasis) is a clinical syndrome with multisystem disorder, the major presentations are arthrogryposis, renal tubular dysfunction and cholestasis. It is a rare autosomal recessive syndrome which is caused by mutations in VPS33B gene on chromosome 15q26.1. ARC is a rare syndrome. Until now, there haven’t had any reports on ARC syndrome in Vietnam.
Objective: Describle clinical, laboratory characteristics and follow up ARC patients.
Methods: The retrospective description.
Results and conclusions: In the time 1/2012-2/2014, at National Hospital of Pediatrics, we detected eight ARC cases. The major clinical signs: arthrogryposis, renal tubular dysfunction, cholestasis. Some other disorders: ichthyosis, failure to thrive, recurrent fever, diarrhea… mutations in VPS33B. The ARC patients have high mortality, inability to cure. The next pregnancy of woman, who have had ARC baby should be followed up and consulted carefully.
Keywords: Arthrogryposis, renal dysfunction, cholestasis syndrome (ARC syndrome); arthrogryposis; renal dysfunction; cholestasis; mutations on VPS33B gene
