Akademik Veri Yönetim Sistemi
EUROPEAN JOURNAL OF PEDIATRICS, cilt.168, sa.8, ss.995-998, 2009 (SCI-Expanded, Scopus)
Introduction Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome is a rare multisystem disorder first described in 1979 and recently ascribed to mutation in VPS33B whose product acts in intracellular trafficking. It exhibits wide clinical variability. Arthrogryposis, spillage of various substances in the urine, and conjugated hyperbilirubinemia define an ARC core phenotype, in some patients associated with ichthyosis, central nervous system malformation, deafness, and platelet abnormalities. Many patients with different associations of cholestasis, renal tubular acidosis, and dysmorphic morphology may be underdiagnosed. Case report We report the third patient of ARC syndrome from Turkey with an incomplete form with renal tubular dysfunction and cholestasis in the absence of arthrogryposis but exhibiting other rare features. Conclusion Our case highlights that the variability of involvement of different systems in ARC syndrome is well described; however, the renal glomerulocystic appearance has not been reported previously. Knowledge of this rare condition can benefit the practitioner as well as the patient.