{"title":"ALPL c.1559del基因变异的低磷酸症患者肾钙沉着症的高发率","authors":"Hisashi Kawashima, Atsuko Sasame, Yoko Ogaki, Takayuki Nakayama","doi":"10.31662/jmaj.2024-0138","DOIUrl":null,"url":null,"abstract":"<p><strong>Introduction: </strong>Hypophosphatasia has been reported to develop nephrocalcinosis, renal stone, and chronic kidney failure. We investigated their renal impairments in the adults with hypophosphatasia to know the phenotype-genotype correlation.</p><p><strong>Methods: </strong>We subjected 11 patients with hypophosphatasia who were diagnosed by chance in the routine medical health checkup. Most cases had past history of fracture. Bone mineral density showed low or lower normal limit.</p><p><strong>Results: </strong>Four of six patients also had high levels of ionized Ca. In subjected six cases, four showed high urinary Ca excretion. Nephrocalcinosis is found in five cases even if the symptoms of hypophosphatasia are mild. Four out of five patients with a mutation of c.1559del in <i>ALPL</i> had nephrocalcinosis and/or kidney stones. One patient already developed hydronephrosis. One of six patients with other mutations showed nephrocalcinosis.</p><p><strong>Conclusions: </strong>The phenotype-genotype correlation between renal impairment and c.1559del of <i>ALPL</i> gene was suggested.</p>","PeriodicalId":73550,"journal":{"name":"JMA journal","volume":"8 1","pages":"204-208"},"PeriodicalIF":1.5000,"publicationDate":"2025-01-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11799467/pdf/","citationCount":"0","resultStr":"{\"title\":\"High Prevalence of Nephrocalcinosis in Hypophosphatasia Patients with the <i>ALPL</i> c.1559del Gene Variant.\",\"authors\":\"Hisashi Kawashima, Atsuko Sasame, Yoko Ogaki, Takayuki Nakayama\",\"doi\":\"10.31662/jmaj.2024-0138\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Introduction: </strong>Hypophosphatasia has been reported to develop nephrocalcinosis, renal stone, and chronic kidney failure. We investigated their renal impairments in the adults with hypophosphatasia to know the phenotype-genotype correlation.</p><p><strong>Methods: </strong>We subjected 11 patients with hypophosphatasia who were diagnosed by chance in the routine medical health checkup. Most cases had past history of fracture. Bone mineral density showed low or lower normal limit.</p><p><strong>Results: </strong>Four of six patients also had high levels of ionized Ca. In subjected six cases, four showed high urinary Ca excretion. Nephrocalcinosis is found in five cases even if the symptoms of hypophosphatasia are mild. Four out of five patients with a mutation of c.1559del in <i>ALPL</i> had nephrocalcinosis and/or kidney stones. One patient already developed hydronephrosis. One of six patients with other mutations showed nephrocalcinosis.</p><p><strong>Conclusions: </strong>The phenotype-genotype correlation between renal impairment and c.1559del of <i>ALPL</i> gene was suggested.</p>\",\"PeriodicalId\":73550,\"journal\":{\"name\":\"JMA journal\",\"volume\":\"8 1\",\"pages\":\"204-208\"},\"PeriodicalIF\":1.5000,\"publicationDate\":\"2025-01-15\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11799467/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"JMA journal\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.31662/jmaj.2024-0138\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/12/20 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q2\",\"JCRName\":\"MEDICINE, GENERAL & INTERNAL\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"JMA journal","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.31662/jmaj.2024-0138","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/12/20 0:00:00","PubModel":"Epub","JCR":"Q2","JCRName":"MEDICINE, GENERAL & INTERNAL","Score":null,"Total":0}
High Prevalence of Nephrocalcinosis in Hypophosphatasia Patients with the ALPL c.1559del Gene Variant.
Introduction: Hypophosphatasia has been reported to develop nephrocalcinosis, renal stone, and chronic kidney failure. We investigated their renal impairments in the adults with hypophosphatasia to know the phenotype-genotype correlation.
Methods: We subjected 11 patients with hypophosphatasia who were diagnosed by chance in the routine medical health checkup. Most cases had past history of fracture. Bone mineral density showed low or lower normal limit.
Results: Four of six patients also had high levels of ionized Ca. In subjected six cases, four showed high urinary Ca excretion. Nephrocalcinosis is found in five cases even if the symptoms of hypophosphatasia are mild. Four out of five patients with a mutation of c.1559del in ALPL had nephrocalcinosis and/or kidney stones. One patient already developed hydronephrosis. One of six patients with other mutations showed nephrocalcinosis.
Conclusions: The phenotype-genotype correlation between renal impairment and c.1559del of ALPL gene was suggested.
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