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Dergiler / The Journal of Pediatric Research / 2018 / Cilt: 5 - Sayı: 3

A Rare Case of Cholestasis: Arthrogryposis, Renal Tubular Disorder and Cholestasis Syndrome

Yelda TÜRKMENOĞLU
Yeşim ACAR
Fatih Cemal ÖZDEMİR
Ralfi SINGER
Afig BERDELİ
Servet Erdal ADAL
Sayfa
161–163
DOI
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⚡ TL;DR(1 Cümlede Hızlı Çıkarım)

We present a case of ARC syndrome diagnosed by genetic analysis.

📌 3 Maddede Bu Makale

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Amaç & Hipotez:Arthrogryposis, renal tubular dysfunction and cholestasis (ARC) syndrome is a rare, autosomal recessive multisystem disorder.
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Temel Bulgular & Veri:Severe growthretardation, ichthyosis, recurrent febrile disease, platelet abnormalities, sensorineural hearing loss, hypotonia and corpus callosum dysgenesis werelater included as further features of this syndrome.
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Sonuç & Katkı:We present a case of ARC syndrome diagnosed by genetic analysis.
🔬Tür:Araştırma Makalesi
📍Kapsam:Genişletilmiş Akademik Örneklem
⚙️Değişkenler:Alan Parametreleri

Özet

Arthrogryposis, renal tubular dysfunction and cholestasis (ARC) syndrome is a rare, autosomal recessive multisystem disorder. Severe growthretardation, ichthyosis, recurrent febrile disease, platelet abnormalities, sensorineural hearing loss, hypotonia and corpus callosum dysgenesis werelater included as further features of this syndrome. We present a case of ARC syndrome diagnosed by genetic analysis.

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Bu Makaleye Atıf Yap

TÜRKMENOĞLU, Y., ACAR, Y., ÖZDEMİR, F. C., SINGER, R., BERDELİ, A., ADAL, S. E. (2018). A Rare Case of Cholestasis: Arthrogryposis, Renal Tubular Disorder and Cholestasis Syndrome. The Journal of Pediatric Research, Cilt: 5 - Sayı: 3, 161–163. https://ajindex.com/articles/362742

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Kaynakça (6)

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  2. Zhou Y, Zhang J. Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome: from molecular genetics to clinical features. Ital J Pediatr 2014;40:77. Tekin N, Durmuş-Aydoğdu S, Dinleyici EC, Bör O, Bildirici K, Akşit A. Clinical and pathological aspects of ARC (arthrogryposis, renal dysfunction and cholestasis) syndrome in two siblings. Turk J Pediatr 2005;47:67-70.
  3. Arhan E, Yusufoğlu AM, Sayli TR. Arc syndrome without arthrogryposis, with hip dislocation and renal glomerulocystic appearance: a case report. Eur J Pediatr 2009;168:995-8.
  4. Jang JY, Kim KM, Kim GH, et al Clinical characteristics and VPS33B mutations in patients with ARC syndrome. J Pediatr Gastroenterol Nutr 2009;48:348-54.
  5. Saadah OI, Bokhari BE, Alshaeri TM, Jastaniah W. Haematological manifestations of arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome: a case report. Arab J Gastroenterol 2013;14:26- 8. Akbar MA, Mandraju R, Tracy C, Hu W, Pasare C, Krämer H. ARC Syndrome-Linked Vps33B Protein Is Required for Inflammatory Endosomal Maturation and Signal Termination. Immunity 2016;45:267-79.
  6. Dehghani SM, Bahador A, Nikeghbalian S, et al. Liver transplant in a case of arthrogryposis-renal tubular dysfunction-cholestasis syndrome with severe intractable pruritus. Exp Clin Transplant 2013;11:290-2.