Alport's syndrome and achalasia
A 7-year-old boy presented with a history of postprandial vomiting, failure to thrive, hematuria, proteinuria and decreased renal function. Electron microscopy of a renal biopsy specimen demonstrated the typical glomerular basement membrane changes associated with Alport's syndrome. Audiometry...
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| Veröffentlicht in: | Pediatric nephrology (Berlin, West) West), 1988-07, Vol.2 (3), p.312-314 |
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| container_title | Pediatric nephrology (Berlin, West) |
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| creator | Leichter, H E Vargas, J Cohen, A H Ament, M Salusky, I B |
| description | A 7-year-old boy presented with a history of postprandial vomiting, failure to thrive, hematuria, proteinuria and decreased renal function. Electron microscopy of a renal biopsy specimen demonstrated the typical glomerular basement membrane changes associated with Alport's syndrome. Audiometry revealed a moderate bilateral high-tone sensorineural hearing loss. Bilateral anterior lenticonus and a unilateral cataract were also diagnosed. Achalasia diagnosed radiologically and confirmed by biopsy was corrected by surgery. Evaluations of the parents and three siblings were negative. The patient subsequently developed end-stage renal failure. This case report and a review of the literature suggest that achalasia may be part of Alport's syndrome in some patients. |
| doi_str_mv | 10.1007/BF00858684 |
| format | Article |
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Electron microscopy of a renal biopsy specimen demonstrated the typical glomerular basement membrane changes associated with Alport's syndrome. Audiometry revealed a moderate bilateral high-tone sensorineural hearing loss. Bilateral anterior lenticonus and a unilateral cataract were also diagnosed. Achalasia diagnosed radiologically and confirmed by biopsy was corrected by surgery. Evaluations of the parents and three siblings were negative. The patient subsequently developed end-stage renal failure. 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Electron microscopy of a renal biopsy specimen demonstrated the typical glomerular basement membrane changes associated with Alport's syndrome. Audiometry revealed a moderate bilateral high-tone sensorineural hearing loss. Bilateral anterior lenticonus and a unilateral cataract were also diagnosed. Achalasia diagnosed radiologically and confirmed by biopsy was corrected by surgery. Evaluations of the parents and three siblings were negative. The patient subsequently developed end-stage renal failure. This case report and a review of the literature suggest that achalasia may be part of Alport's syndrome in some patients.</description><subject>Child</subject><subject>Esophageal Achalasia - complications</subject><subject>Esophageal Achalasia - diagnosis</subject><subject>Humans</subject><subject>Kidney Glomerulus - pathology</subject><subject>Male</subject><subject>Nephritis, Hereditary - complications</subject><subject>Nephritis, Hereditary - diagnosis</subject><issn>0931-041X</issn><issn>1432-198X</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1988</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpF0EFLw0AQBeBFlBqrF-9iTgpCdDabzU6OtVgVCl4UeguzySxGkqbuJof-eystenqXjwfvCXEp4V4CmIfHBQBqzDE7EpHMVJrIAlfHIoJCyQQyuToVZyF8wZ5NxERJrUClkbietZveD7chDtt17fuOY1rXMVWf1FJo6FycOGoDXxxyKj4WT-_zl2T59vw6ny2TKsV0SBgRTUEOCysNgFasyFjLFemcwLDWbMBmKKlylBWOnHUu1XnhlEXGWk3Fzb534_vvkcNQdk2ouG1pzf0YSoMICnLcwbs9rHwfgmdXbnzTkd-WEsrfN8r_N3b46tA62o7rP3qYr34A_FFYpA</recordid><startdate>19880701</startdate><enddate>19880701</enddate><creator>Leichter, H E</creator><creator>Vargas, J</creator><creator>Cohen, A H</creator><creator>Ament, M</creator><creator>Salusky, I B</creator><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>7X8</scope></search><sort><creationdate>19880701</creationdate><title>Alport's syndrome and achalasia</title><author>Leichter, H E ; Vargas, J ; Cohen, A H ; Ament, M ; Salusky, I B</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c282t-e88879af89b170053e3a7bbeca56a07e55e70b481acfa49fafbff2569f3b8e8d3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1988</creationdate><topic>Child</topic><topic>Esophageal Achalasia - complications</topic><topic>Esophageal Achalasia - diagnosis</topic><topic>Humans</topic><topic>Kidney Glomerulus - pathology</topic><topic>Male</topic><topic>Nephritis, Hereditary - complications</topic><topic>Nephritis, Hereditary - diagnosis</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Leichter, H E</creatorcontrib><creatorcontrib>Vargas, J</creatorcontrib><creatorcontrib>Cohen, A H</creatorcontrib><creatorcontrib>Ament, M</creatorcontrib><creatorcontrib>Salusky, I B</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Pediatric nephrology (Berlin, West)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Leichter, H E</au><au>Vargas, J</au><au>Cohen, A H</au><au>Ament, M</au><au>Salusky, I B</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Alport's syndrome and achalasia</atitle><jtitle>Pediatric nephrology (Berlin, West)</jtitle><addtitle>Pediatr Nephrol</addtitle><date>1988-07-01</date><risdate>1988</risdate><volume>2</volume><issue>3</issue><spage>312</spage><epage>314</epage><pages>312-314</pages><issn>0931-041X</issn><eissn>1432-198X</eissn><abstract>A 7-year-old boy presented with a history of postprandial vomiting, failure to thrive, hematuria, proteinuria and decreased renal function. 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| ispartof | Pediatric nephrology (Berlin, West), 1988-07, Vol.2 (3), p.312-314 |
| issn | 0931-041X 1432-198X |
| language | eng |
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| source | MEDLINE; SpringerLink Journals |
| subjects | Child Esophageal Achalasia - complications Esophageal Achalasia - diagnosis Humans Kidney Glomerulus - pathology Male Nephritis, Hereditary - complications Nephritis, Hereditary - diagnosis |
| title | Alport's syndrome and achalasia |
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