Bolaji Olufunke, Erinomo Olagoke, Adebara Olufunmilayo, Okolugbo Julia, Onumajuru Bartholomew, Akanni Taiwo, Adebami Olusegun
Department of Paediatrics and Child Health, College of Medicine, Afe Babalola Univerisity, Ado-Ekiti, Nigeria and Federal Teaching Hospital, Ido-Ekiti, Nigeria.
Department of Morbid Anatomy and Histopathology, Federal Teaching Hospital, Ido-Ekiti, Nigeria.
Pan Afr Med J. 2018 Jun 25;30:172. doi: 10.11604/pamj.2018.30.172.15202. eCollection 2018.
Autosomal recessive polycystic kidney disease (ARPKD) is a rare genetic disorder but even rarer in Africans and it is one of the causes of nephropathies in childhood. Although isolated cases of adult PKD have been reported in Nigerians; to the best of our knowledge, this case is the first to be reported in the paediatric age group in Nigeria. A case of autosomal recessive polycystic kidney disease presenting with severe perinatal asphyxia and severe respiratory distressis here by presented. Fetal ultrasonography during the pregnancy missed the diagnosis. The difficulty in making diagnosis and management is discussed. Autopsy helped to unravel the diagnosis in this case report.
常染色体隐性多囊肾病（ARPKD）是一种罕见的遗传性疾病，在非洲人中更为罕见，是儿童肾病的病因之一。虽然尼日利亚曾有成人多囊肾病的个别病例报告；但据我们所知，该病例是尼日利亚儿科年龄组中首例报告的病例。本文报告一例常染色体隐性多囊肾病，患儿出生时伴有严重围产期窒息和严重呼吸窘迫。孕期胎儿超声检查漏诊。文中讨论了诊断和管理的难点。尸检有助于在本病例报告中明确诊断。
