Volume 16/Issue 4, July 2020
A neonate with congenital nephrotic syndrome
Jennifer Peterson, Ramiyya Tharumakunarajah, Yasser Masood, Susan Kamupira, Nicholas Plant
A male infant who was born in poor condition exhibited a persistently raised creatinine level over the first 14 days of life but showed no neurological signs of a significant hypoxic insult. A diagnosis of Finnish-type congenital nephrotic syndrome was eventually made by genetic testing. For neonates presenting with unusual or rare underlying pathologies there may be a period of time in which their signs and symptoms are attributed to a more common pathology. This case report illustrates that alternative more unusual diagnoses must be considered and explored when symptoms and results do not follow an expected course.
Peterson J, Tharumakunarajah R, Masood Y, Kamupira S, Plant N. A neonate with congenital nephrotic syndrome. Infant 2020; 16(4): 152-54.
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