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


Olufunke Bolaji
Olagoke Erinomo
Olufunmilayo Adebara
Julia Okolugbo
Bartholomew Onumajuru
Taiwo Akanni
Olusegun Adebami

Abstract

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.


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eISSN: 1937-8688