title: Arthrogryposis-renal tubular dysfunction-cholestasis syndrome: a cause of neonatal cholestasis. Case report.
abstract: Arthrogryposis-renal dysfunction-cholestasis syndrome is a rare lethal disorder that involves multipl organ system. It is inherited autosomal recessive and caused by defects in the VPS33B and VIPAR genes. Three cardinal findings of this syndrome are arthrogryposis, renal tubular dysfunction and cholestasis.The other organ involvements including ichthyosis, central nervous system malformation, platelet anomalies, congenital heart defects and severe failure to thrive are sometimes associated with this syndrome. Clinical findings, organ biopsy and mutational analysis can help for diagnosing but there is no curative treatment except supportive care. Several symptoms of this condition are already usually present in the neonatal period: arthrogryposis, neonatal cholestasis, skin lesions, among others. Usually survival is until the first year of life. We present a newborn whose evolution was rapidly fatal.
authors.affiliation: Neonatoloji Bölümü, Tepecik Eğitim Ve Araştırma Hastanesi, Konak/İzmir, Turkey. ozkanilhan-83@hotmail.com.
authors.forename: Ozkan
authors.initials: O
authors.lastname: Ilhan
authors.affiliation: Neonatoloji Bölümü, Tıp Fakültesi, Muğla Sıtkı Koçman Üniversitesi, Kötekli/Muğla, Turkey.
authors.forename: Esra A
authors.initials: EA
authors.lastname: Ozer
authors.affiliation: İzmir Dr. Behçet Uz Çocuk Hastalıkları ve Cerrahisi Eğitim ve Araştırma Hastanesi, Konak/İzmir, Turkey.
authors.forename: Senem A
authors.initials: SA
authors.lastname: Ozdemir
authors.affiliation: Tıp Fakültesi, İzmir Katip Çelebi Üniversitesi, İzmir, Turkey.
authors.forename: Sinem
authors.initials: S
authors.lastname: Akbay
authors.affiliation: Neonatoloji Bölümü, Tepecik Eğitim Ve Araştırma Hastanesi, Konak/İzmir, Turkey.
authors.forename: Seyma
authors.initials: S
authors.lastname: Memur
authors.affiliation: Neonatoloji Bölümü, Tepecik Eğitim Ve Araştırma Hastanesi, Konak/İzmir, Turkey.
authors.forename: Berat
authors.initials: B
authors.lastname: Kanar
authors.affiliation: Neonatoloji Bölümü, Tıp Fakültesi, İzmir Katip Çelebi Üniversitesi, İzmir, Turkey.
authors.forename: Mustafa M
authors.initials: MM
authors.lastname: Tatli
mesh_terms: D001176:Arthrogryposis / Q000150:complications* / Q000175:diagnosis; D002779:Cholestasis / Q000175:diagnosis / Q000209:etiology*; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000175:diagnosis / Q000209:etiology*; D051437:Renal Insufficiency / Q000150:complications* / Q000175:diagnosis
keywords: ARC syndrome; Arthrogryposis; Cholestasis; Newborn; Proximal renal tubular dysfunction