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International Journal of Advanced Paediatrics

Volume 1, Issue 1, 2016
Mcmed International
International Journal of Advanced Paediatrics
Issn
XXX-XXXX (Print), XXXX-XXXX (Online)
Frequency
bi-annual
Email
editorijap@mcmed.us
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Abstract
Title
PITFALLS IN THE DIAGNOSIS OF NEPHRONOPHTHISIS
Author
Samul D Rose, Ze'ev Korzets, Jaron Tepper, Tomer Itzhaki, Meidad Greenberg, Roxana Kleper, Galit Pomeranz, Dganit Adam, Yosef Merzel and Avishalom Pomeranz
Email
avip2@clalit.org.il
keyword
Nephronophthisis.
Abstract
Juvenile NPHP, the most common form of the disease, initially manifests at around age 5-6 with polyuria and polydipsia. These symptoms are consequent to a decreased urinary concentrating capacity and loss of sodium conservation and occur early in the course of the disease. Nighttime fluid intake and salt craving are characteristic features of the patient's history. Secondary nocturnal enuresis may eventuate. As these features develop well before any reduction in glomerular filtration rate, are non-specific and of a mild nature, they often mask the underlying disease.We report a case of juvenile NPHP in a 15 year old female in which diagnosis was only established when she presented with end stage renal disease. The patient's course and reasons for the deferred diagnosis are discussed.
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