{"title":"低碱性磷酸血症牙科类型:病例报告","authors":"Weihua Liu, Xiaoyang Min, Hongli Wang, Qianqian Lu, Lulu Li, Haiping Chu","doi":"10.1177/11795565241256615","DOIUrl":null,"url":null,"abstract":"<p><p>Mutations in dental hypophosphatasia (HPP) have been reported less than those in other types of HPP because the symptoms are mild or the dental lesions are only partial manifestations of other types of HPP. In this case, we observe the clinical manifestation of dental hypoalkaline phosphatase by analyzing the genetic mutation and biochemical parameters in child. The clinical data of the child with odonto HPP were collected and analyzed. The blood samples of the child and his parents were sequenced and verified using Sanger through a specific probe capture and high-throughput second-generation sequencing technology. Major clinical manifestations in the patient were early loss of deciduous teeth, significantly lower serum alkaline phosphatase (ALP) levels, lower active vitamin D, and increased blood phosphorus, but no abnormality was observed in the oral X-ray. Two missense mutations-c.542C>T (p. ser181leu) and c.644 T> C (p.Ile215Thr)-were found in exon 6 of the <i>ALPL</i> gene from the father and mother, respectively. The clinical manifestations of odonto hypophosphatasia were early loss of deciduous teeth and significantly reduced serum ALP levels. Of 2 mutations-c.542C>T (p.ser181leu) and c.644 T> C (p.Ile215Thr)-in the <i>ALPL</i> gene, c.644 T> C (p.Ile215Thr) was a new mutation.</p>","PeriodicalId":45027,"journal":{"name":"Clinical Medicine Insights-Pediatrics","volume":null,"pages":null},"PeriodicalIF":1.7000,"publicationDate":"2024-06-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11185034/pdf/","citationCount":"0","resultStr":"{\"title\":\"Hypoalkaline Phosphatemia Dental Type: A Case Report.\",\"authors\":\"Weihua Liu, Xiaoyang Min, Hongli Wang, Qianqian Lu, Lulu Li, Haiping Chu\",\"doi\":\"10.1177/11795565241256615\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Mutations in dental hypophosphatasia (HPP) have been reported less than those in other types of HPP because the symptoms are mild or the dental lesions are only partial manifestations of other types of HPP. In this case, we observe the clinical manifestation of dental hypoalkaline phosphatase by analyzing the genetic mutation and biochemical parameters in child. The clinical data of the child with odonto HPP were collected and analyzed. The blood samples of the child and his parents were sequenced and verified using Sanger through a specific probe capture and high-throughput second-generation sequencing technology. Major clinical manifestations in the patient were early loss of deciduous teeth, significantly lower serum alkaline phosphatase (ALP) levels, lower active vitamin D, and increased blood phosphorus, but no abnormality was observed in the oral X-ray. Two missense mutations-c.542C>T (p. ser181leu) and c.644 T> C (p.Ile215Thr)-were found in exon 6 of the <i>ALPL</i> gene from the father and mother, respectively. The clinical manifestations of odonto hypophosphatasia were early loss of deciduous teeth and significantly reduced serum ALP levels. Of 2 mutations-c.542C>T (p.ser181leu) and c.644 T> C (p.Ile215Thr)-in the <i>ALPL</i> gene, c.644 T> C (p.Ile215Thr) was a new mutation.</p>\",\"PeriodicalId\":45027,\"journal\":{\"name\":\"Clinical Medicine Insights-Pediatrics\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":1.7000,\"publicationDate\":\"2024-06-17\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11185034/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Clinical Medicine Insights-Pediatrics\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1177/11795565241256615\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/1/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"Q2\",\"JCRName\":\"PEDIATRICS\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Clinical Medicine Insights-Pediatrics","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1177/11795565241256615","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/1/1 0:00:00","PubModel":"eCollection","JCR":"Q2","JCRName":"PEDIATRICS","Score":null,"Total":0}
引用次数: 0
摘要
牙源性低碱性磷酸酶症(HPP)基因突变的报道少于其他类型的 HPP,因为其症状轻微或牙齿病变只是其他类型 HPP 的部分表现。在本病例中,我们通过分析患儿的基因突变和生化指标,观察牙齿低碱性磷酸酶的临床表现。我们收集并分析了患有牙源性低碱性磷酸酶的患儿的临床数据。通过特异性探针捕获和高通量二代测序技术,使用 Sanger 对患儿及其父母的血样进行了测序和验证。该患者的主要临床表现为乳牙早失、血清碱性磷酸酶(ALP)水平明显降低、活性维生素 D 降低和血磷升高,但口腔 X 光检查未发现异常。在父亲和母亲的 ALPL 基因第 6 外显子中分别发现了两个错义突变-c.542C>T(p. ser181leu)和 c.644 T> C(p.Ile215Thr)。奥多托低磷酸盐症的临床表现为早期乳牙脱落和血清 ALP 水平显著降低。在ALPL基因的两个突变-c.542C>T(p.ser181leu)和c.644 T> C(p.Ile215Thr)中,c.644 T> C(p.Ile215Thr)是一个新的突变。
Hypoalkaline Phosphatemia Dental Type: A Case Report.
Mutations in dental hypophosphatasia (HPP) have been reported less than those in other types of HPP because the symptoms are mild or the dental lesions are only partial manifestations of other types of HPP. In this case, we observe the clinical manifestation of dental hypoalkaline phosphatase by analyzing the genetic mutation and biochemical parameters in child. The clinical data of the child with odonto HPP were collected and analyzed. The blood samples of the child and his parents were sequenced and verified using Sanger through a specific probe capture and high-throughput second-generation sequencing technology. Major clinical manifestations in the patient were early loss of deciduous teeth, significantly lower serum alkaline phosphatase (ALP) levels, lower active vitamin D, and increased blood phosphorus, but no abnormality was observed in the oral X-ray. Two missense mutations-c.542C>T (p. ser181leu) and c.644 T> C (p.Ile215Thr)-were found in exon 6 of the ALPL gene from the father and mother, respectively. The clinical manifestations of odonto hypophosphatasia were early loss of deciduous teeth and significantly reduced serum ALP levels. Of 2 mutations-c.542C>T (p.ser181leu) and c.644 T> C (p.Ile215Thr)-in the ALPL gene, c.644 T> C (p.Ile215Thr) was a new mutation.