Phenotypic Variability in Siblings With Autosomal Recessive Polycystic Kidney Disease

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Ajiri R., Burgmaier K., Akinci N., Broekaert I., Buescher A., DURSUN İ., ...Daha Fazla

KIDNEY INTERNATIONAL REPORTS, cilt.7, sa.7, ss.1643-1652, 2022 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 7 Sayı: 7
  • Basım Tarihi: 2022
  • Doi Numarası: 10.1016/j.ekir.2022.04.095
  • Dergi Adı: KIDNEY INTERNATIONAL REPORTS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, EMBASE, Directory of Open Access Journals
  • Sayfa Sayıları: ss.1643-1652
  • Anahtar Kelimeler: ARPKD, Ciliopathies, DZIP1L, Fibrocystin, PKD, PKHD1, CONGENITAL HEPATIC-FIBROSIS, RENAL-TRANSPLANTATION, CLINICAL-EXPERIENCE, PRENATAL-DIAGNOSIS, CHILDREN, ARPKD, MUTATIONS, GENETICS, LIVER
  • İstanbul Üniversitesi Adresli: Evet

Özet

Introduction: Autosomal recessive polycystic kidney disease (ARPKD) is a rare monogenic disorder characterized by early onset fibrocystic hepatorenal changes. Previous reports have documented pronounced phenotypic variability even among siblings in terms of patient survival. The underlying causes for this clinical variability are incompletely understood.