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nephrology; renal; urea; creatinine
Also published in Infant:
VOLUME 16/ISSUE 4, JULY 2020
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.