1. bookVolume 22 (2014): Issue 3 (September 2014)
Journal Details
License
Format
Journal
eISSN
2284-5623
First Published
08 Aug 2013
Publication timeframe
4 times per year
Languages
English
access type Open Access

Hypouricemia - the simple key towards diagnosis in a case of purine nucleoside phosphorylase deficiency, a rare and severe disease /Hipouricemia - cheia către diagnosticul unui caz de deficit de purin nucleozid fosforilază, o boală rară si severă

Published Online: 08 Oct 2014
Page range: 321 - 323
Received: 20 Aug 2013
Accepted: 12 Jul 2014
Journal Details
License
Format
Journal
eISSN
2284-5623
First Published
08 Aug 2013
Publication timeframe
4 times per year
Languages
English
Abstract

We describe the case of a 15 month old boy, investigated for repeated and prolonged infections, associated to progressive neurological impairment. Immunological work-up found low immunoglobulin levels and decreased numbers of T and B lymphocytes, with a T-B-NK+ phenotype. Imaging showed lack of thymus and cerebral cortex atrophy. The key towards the diagnosis was plasma uric acid determination: hypouricemia suggested purine nucleoside phosphorylase deficiency, a very rare disease, with only 67 reported cases worldwide. Diagnosis was confirmed by enzyme activity measured using a radioisotopic method.

Keywords

Cuvinte cheie

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