Hyperuricemia and gout due to deficiency of hypoxanthine-guanine phosphoribosyltransferase in female carriers: New insight to differential diagnosis
Language English Country Netherlands Media print-electronic
Document type Case Reports, Journal Article, Research Support, Non-U.S. Gov't
PubMed
25476133
DOI
10.1016/j.cca.2014.11.026
PII: S0009-8981(14)00531-2
Knihovny.cz E-resources
- Keywords
- Gout, Hyperuricemia, Hypoxanthine–guanine phosphoribosyltransferase deficiency, Lesch–Nyhan syndrome, Purine metabolism,
- MeSH
- Diagnosis, Differential MeSH
- Child MeSH
- Gout etiology genetics MeSH
- Adult MeSH
- Heterozygote MeSH
- Hyperuricemia diagnosis etiology MeSH
- Hypoxanthine urine MeSH
- Hypoxanthine Phosphoribosyltransferase deficiency genetics MeSH
- Humans MeSH
- Mutation * MeSH
- Infant, Newborn MeSH
- Pedigree MeSH
- Xanthine urine MeSH
- Check Tag
- Child MeSH
- Adult MeSH
- Humans MeSH
- Male MeSH
- Infant, Newborn MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Case Reports MeSH
- Research Support, Non-U.S. Gov't MeSH
- Names of Substances
- Hypoxanthine MeSH
- Hypoxanthine Phosphoribosyltransferase MeSH
- Xanthine MeSH
BACKGROUND: X-linked hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency in an inherited disorder of purine metabolism is usually associated with the clinical manifestations of hyperuricemia. A variable spectrum of neurological involvement occurs predominantly in males. Females are usually asymptomatic. Carrier status cannot be confirmed by biochemical and enzymatic methods reliably. METHODS: We studied clinical, biochemical and molecular genetic characteristics of Czech families with hyperuricemia and HPRT deficiency. We analyzed age at diagnosis, clinical symptoms, uricemia, urinary hypoxanthine and xanthine, HPRT activity in erythrocytes, mutation in the HPRT1 gene, X-inactivation, and major urate transporters. RESULTS: A mutation in the HPRT1 gene in family A was confirmed in one boy and four females. Three females with hyperuricemia had normal excretion of purine. One female was normouricemic. An 8-month-old boy with neurological symptoms showed hyperuricemia, increased excretion of urinary hypoxanthine and xanthine and a very low HPRT activity in erythrocytes. We have found three other unrelated female carriers with hyperuricemia and normal excretion of hypoxanthine and xanthine among other families with HPRT deficiency. CONCLUSIONS: HPRT deficiency needs to be considered in females with hyperuricemia with normal excretion of purine metabolites. Familiar hyperuricemia and/or nonfamiliar gout should always be further investigated, especially in children.
Clin Chim Acta. 2015 Jul 20;447:121 PubMed Musalkova, Dita [added]
References provided by Crossref.org
The impact of dysfunctional variants of ABCG2 on hyperuricemia and gout in pediatric-onset patients
