Partial hypoxanthine-guanine phosphoribosyltransferase deficiency presenting as acute renal failure
Hyperuricemia and secondary urate nephropathy are uncommon in the paediatric setting outside of tumour lysis syndrome. We describe the case of a 12-year-old boy who presented at 3 years of age with acute renal failure. The cause of this remained unknown until the development of uric acid renal calcu...
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| Veröffentlicht in: | Pediatric nephrology (Berlin, West) West), 2005-12, Vol.20 (12), p.1811-1813 |
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| container_title | Pediatric nephrology (Berlin, West) |
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| creator | Cherian, Sarah Crompton, Charles H |
| description | Hyperuricemia and secondary urate nephropathy are uncommon in the paediatric setting outside of tumour lysis syndrome. We describe the case of a 12-year-old boy who presented at 3 years of age with acute renal failure. The cause of this remained unknown until the development of uric acid renal calculi 9 years later. This, and the availability of the previously unknown family history, provided the subsequent diagnosis of partial hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency. Detailed family history is important for early detection of this heterogeneous group of disorders. Early treatment may minimise long-term renal morbidity and mortality from renal insufficiency. |
| doi_str_mv | 10.1007/s00467-005-2065-8 |
| format | Article |
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We describe the case of a 12-year-old boy who presented at 3 years of age with acute renal failure. The cause of this remained unknown until the development of uric acid renal calculi 9 years later. This, and the availability of the previously unknown family history, provided the subsequent diagnosis of partial hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency. Detailed family history is important for early detection of this heterogeneous group of disorders. Early treatment may minimise long-term renal morbidity and mortality from renal insufficiency.</description><identifier>ISSN: 0931-041X</identifier><identifier>EISSN: 1432-198X</identifier><identifier>DOI: 10.1007/s00467-005-2065-8</identifier><identifier>PMID: 16240158</identifier><language>eng</language><publisher>Germany: Springer</publisher><subject>Acute Kidney Injury - diagnostic imaging ; Acute Kidney Injury - enzymology ; Acute Kidney Injury - etiology ; Acute Kidney Injury - genetics ; Acute renal failure ; Age of Onset ; Allopurinol - administration & dosage ; Buffers ; Care and treatment ; Case studies ; Cells, Cultured ; Child ; Diagnosis ; Enzyme Inhibitors - administration & dosage ; Erythrocytes - enzymology ; Female ; Fibroblasts - enzymology ; Follow-Up Studies ; Genetic Linkage ; Greece - ethnology ; Heterozygote ; Humans ; Hyperuricemia - drug therapy ; Hyperuricemia - etiology ; Hypoxanthine Phosphoribosyltransferase - deficiency ; Hypoxanthine Phosphoribosyltransferase - genetics ; Male ; Metabolic diseases ; Pedigree ; Skin - cytology ; Sodium Bicarbonate - administration & dosage ; Time Factors ; Treatment Outcome ; Ultrasonography ; Urinary Calculi - chemistry ; Urinary Calculi - etiology</subject><ispartof>Pediatric nephrology (Berlin, West), 2005-12, Vol.20 (12), p.1811-1813</ispartof><rights>COPYRIGHT 2005 Springer</rights><rights>IPNA 2005</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c357t-c4c34d22429eb30fd410e37dae5828516e64304ea42a275113fcaba6916902cf3</citedby><cites>FETCH-LOGICAL-c357t-c4c34d22429eb30fd410e37dae5828516e64304ea42a275113fcaba6916902cf3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780,27901,27902</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/16240158$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Cherian, Sarah</creatorcontrib><creatorcontrib>Crompton, Charles H</creatorcontrib><title>Partial hypoxanthine-guanine phosphoribosyltransferase deficiency presenting as acute renal failure</title><title>Pediatric nephrology (Berlin, West)</title><addtitle>Pediatr Nephrol</addtitle><description>Hyperuricemia and secondary urate nephropathy are uncommon in the paediatric setting outside of tumour lysis syndrome. We describe the case of a 12-year-old boy who presented at 3 years of age with acute renal failure. The cause of this remained unknown until the development of uric acid renal calculi 9 years later. This, and the availability of the previously unknown family history, provided the subsequent diagnosis of partial hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency. Detailed family history is important for early detection of this heterogeneous group of disorders. Early treatment may minimise long-term renal morbidity and mortality from renal insufficiency.</description><subject>Acute Kidney Injury - diagnostic imaging</subject><subject>Acute Kidney Injury - enzymology</subject><subject>Acute Kidney Injury - etiology</subject><subject>Acute Kidney Injury - genetics</subject><subject>Acute renal failure</subject><subject>Age of Onset</subject><subject>Allopurinol - administration & dosage</subject><subject>Buffers</subject><subject>Care and treatment</subject><subject>Case studies</subject><subject>Cells, Cultured</subject><subject>Child</subject><subject>Diagnosis</subject><subject>Enzyme Inhibitors - administration & dosage</subject><subject>Erythrocytes - enzymology</subject><subject>Female</subject><subject>Fibroblasts - enzymology</subject><subject>Follow-Up Studies</subject><subject>Genetic Linkage</subject><subject>Greece - ethnology</subject><subject>Heterozygote</subject><subject>Humans</subject><subject>Hyperuricemia - drug therapy</subject><subject>Hyperuricemia - etiology</subject><subject>Hypoxanthine Phosphoribosyltransferase - deficiency</subject><subject>Hypoxanthine Phosphoribosyltransferase - genetics</subject><subject>Male</subject><subject>Metabolic diseases</subject><subject>Pedigree</subject><subject>Skin - cytology</subject><subject>Sodium Bicarbonate - administration & dosage</subject><subject>Time Factors</subject><subject>Treatment Outcome</subject><subject>Ultrasonography</subject><subject>Urinary Calculi - chemistry</subject><subject>Urinary Calculi - etiology</subject><issn>0931-041X</issn><issn>1432-198X</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2005</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>BENPR</sourceid><recordid>eNpdkUtr3DAUhUVpaaZpf0A3xXTRnZOrh2V5GUIfgUCzSCA7cUe-HitoJFeyofPv62EGAl1czuacw-F-jH3mcMUB2usCoHRbAzS1AN3U5g3bcCVFzTvz_JZtoJO8BsWfL9iHUl4AwDRGv2cXXAsFvDEb5h4wzx5DNR6m9BfjPPpI9W7BuGo1jamsl_02lUOYM8YyUMZCVU-Dd56iO1RTpkJx9nFXYanQLTNVmeLaOaAPS6aP7N2AodCns16ypx_fH29_1fe_f97d3tzXTjbtXDvlpOqFUKKjrYShVxxItj1SY4RpuCatJChCJVC0DedycLhF3XHdgXCDvGTfTr1TTn8WKrPd--IoBIyUlmK1MevXNF-NX_8zvqQlr4uLFULIFtbK17YdBrIjYZjHksIy-xSLveGNMK1Q5mjkJ6PLqZRMg52y32M-WA72yMmeONmVkz1ysmbNfDkvWLZ76l8TZzDyH7tfjsE</recordid><startdate>200512</startdate><enddate>200512</enddate><creator>Cherian, Sarah</creator><creator>Crompton, Charles H</creator><general>Springer</general><general>Springer Nature B.V</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7QP</scope><scope>7RV</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8AO</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BENPR</scope><scope>CCPQU</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>K9-</scope><scope>K9.</scope><scope>KB0</scope><scope>M0R</scope><scope>M0S</scope><scope>M1P</scope><scope>NAPCQ</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>7X8</scope></search><sort><creationdate>200512</creationdate><title>Partial hypoxanthine-guanine phosphoribosyltransferase deficiency presenting as acute renal failure</title><author>Cherian, Sarah ; 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We describe the case of a 12-year-old boy who presented at 3 years of age with acute renal failure. The cause of this remained unknown until the development of uric acid renal calculi 9 years later. This, and the availability of the previously unknown family history, provided the subsequent diagnosis of partial hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency. Detailed family history is important for early detection of this heterogeneous group of disorders. Early treatment may minimise long-term renal morbidity and mortality from renal insufficiency.</abstract><cop>Germany</cop><pub>Springer</pub><pmid>16240158</pmid><doi>10.1007/s00467-005-2065-8</doi><tpages>3</tpages></addata></record> |
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| source | MEDLINE; SpringerLink Journals - AutoHoldings |
| subjects | Acute Kidney Injury - diagnostic imaging Acute Kidney Injury - enzymology Acute Kidney Injury - etiology Acute Kidney Injury - genetics Acute renal failure Age of Onset Allopurinol - administration & dosage Buffers Care and treatment Case studies Cells, Cultured Child Diagnosis Enzyme Inhibitors - administration & dosage Erythrocytes - enzymology Female Fibroblasts - enzymology Follow-Up Studies Genetic Linkage Greece - ethnology Heterozygote Humans Hyperuricemia - drug therapy Hyperuricemia - etiology Hypoxanthine Phosphoribosyltransferase - deficiency Hypoxanthine Phosphoribosyltransferase - genetics Male Metabolic diseases Pedigree Skin - cytology Sodium Bicarbonate - administration & dosage Time Factors Treatment Outcome Ultrasonography Urinary Calculi - chemistry Urinary Calculi - etiology |
| title | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency presenting as acute renal failure |
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