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Archivos de Pediatría del Uruguay
Print version ISSN 0004-0584On-line version ISSN 1688-1249
Abstract
BERMUDEZ, Amanda; NOTEJANE, Martín and MACHADO, Karina. Arthrogryposis syndrome - kidney dysfunction - cholestasis. Diagnostic and therapeutic approach to the first case reported in Uruguay. Arch. Pediatr. Urug. [online]. 2024, vol.95, n.2, e318. Epub Dec 01, 2024. ISSN 0004-0584. https://doi.org/10.31134/ap.95.2.17.
Introduction:
the arthrogryposis, renal tubular dysfunction and cholestasis (arc) syndrome is a rare genetic disorder, with multisystem presentation and poor prognosis.
Objectives:
the purpose of this paper is to describe the interdisciplinary diagnostic and therapeutic approach of a small infant with this syndrome.
Clinical case:
18 months, male. No perinatal history. Healthy parents, not consanguineous. At birth, talus valgus foot was confirmed, with no other dysmorphisms. First trimester malnutrition. Dry and peeling skin. Progressive cholestatic jaundice. Bile duct atresia and other obstructive causes, cystic fibrosis, as well as infectious, endocrinological and metabolic causes were ruled out. A genetic syndrome of familial intrahepatic cholestasis was suspected. ARC syndrome was confirmed by genetic study. At 7 months he developed Fanconi-type tubular renal dysfunction. An interdisciplinary approach and follow-up was carried out. He had multiple exacerbations of his tubulopathy, in the context of infections. He died after a year and 6 months in a new decompensation.
Discussion:
the three signs that guide the clinical diagnosis of this syndrome are: arthrogryposis, renal tubular dysfunction and cholestasis. It may be associated, less frequently, with ichthyosis, malformation of the central nervous system, heart disease, thrombocytic abnormalities and growth retardation. Diagnostic confirmation is carried out through genetic study. There is no curative treatment; it is based on symptomatic control and correction of ionic and metabolic alterations. The prognosis is poor, with survival of no more than 2 years, so interdisciplinary follow-up is necessary, including early palliative care.
Keywords : Arthrogryposis; Cholestasis; Fanconi síndrome; Child.