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.
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.
Authors: Paul Gissen; Louise Tee; Colin A Johnson; Emmanuelle Genin; Almuth Caliebe; David Chitayat; Carol Clericuzio; Jonas Denecke; Maja Di Rocco; Björn Fischler; David FitzPatrick; Angeles García-Cazorla; Delphine Guyot; Sebastien Jacquemont; Sibylle Koletzko; Bruno Leheup; Hanna Mandel; Maria Teresa Vieira Sanseverino; Roderick H J Houwen; Patrick J McKiernan; Deirdre A Kelly; Eamonn R Maher Journal: Hum Genet Date: 2006-08-01 Impact factor: 4.132
Authors: Amelia Holme; Jennifer A Hurcombe; Anna Straatman-Iwanowska; Carol I Inward; Paul Gissen; Richard J Coward Journal: Clin Kidney J Date: 2013-01-29