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Autosomal recessive polycystic kidney disease (ARPKD) in a Nigerian newborn: a case report

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 repo...

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Detalles Bibliográficos
Autores principales: Bolaji, Olufunke, Erinomo, Olagoke, Adebara, Olufunmilayo, Okolugbo, Julia, Onumajuru, Bartholomew, Akanni, Taiwo, Adebami, Olusegun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The African Field Epidemiology Network 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6235478/
https://www.ncbi.nlm.nih.gov/pubmed/30455801
http://dx.doi.org/10.11604/pamj.2018.30.172.15202
Descripción
Sumario: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.