{"id":913,"date":"2016-08-16T18:45:15","date_gmt":"2016-08-16T18:45:15","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=913"},"modified":"2026-02-24T21:23:32","modified_gmt":"2026-02-24T21:23:32","slug":"amelogenesis-imperfecta-in-familial-hypomagnesaemia-and-hypercalciuria-with-nephrocalcinosis-caused-by-cldn19-gene-mutations","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2016\/08\/16\/amelogenesis-imperfecta-in-familial-hypomagnesaemia-and-hypercalciuria-with-nephrocalcinosis-caused-by-cldn19-gene-mutations\/","title":{"rendered":"Amelogenesis imperfecta in familial hypomagnesaemia and hypercalciuria with nephrocalcinosis caused by CLDN19 gene mutations (Contributed by Dr. Ana Carolina Acevedo)"},"content":{"rendered":"<p>Amelogenesis Imperfecta (AI) is a genetic condition characterized by tooth enamel quantitative or qualitative defects. The defects affect the enamel appearance, which can be chalky, discolored, thinner, pitted or grooved. Usually, a combination of different defects can be found within the same patient. In the last decade, studies have shown that AI may be associated with some inherited kidney diseases. In our study, we demonstrated that patients with Familial Hypomagnesemia and Hypecalciuria with Nephrocalcinosis may present AI. This study reinforces the importance of the dental exam of kidney diseases patients and the importance of nephrologic investigation of patients with AI. (<a href=\"http:\/\/jmg.bmj.com\/content\/early\/2016\/08\/16\/jmedgenet-2016-103956\">http:\/\/jmg.bmj.com\/content\/early\/2016\/08\/16\/jmedgenet-2016-103956<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Amelogenesis Imperfecta (AI) is a genetic condition characterized by tooth enamel quantitative or qualitative defects. The defects affect the enamel appearance, which can be chalky, discolored, thinner, pitted or grooved. Usually, a combination of different defects can be found within the same patient. In the last decade, studies have shown that AI may be associated [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2016\/08\/16\/amelogenesis-imperfecta-in-familial-hypomagnesaemia-and-hypercalciuria-with-nephrocalcinosis-caused-by-cldn19-gene-mutations\/\">Read More&#8230;<\/a><\/p>\n","protected":false},"author":123,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[],"class_list":["post-913","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.4 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Amelogenesis imperfecta in familial hypomagnesaemia and hypercalciuria with nephrocalcinosis caused by CLDN19 gene mutations (Contributed by Dr. Ana Carolina Acevedo) - JMG Contact blog<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/blogs.bmj.com\/jmg\/2016\/08\/16\/amelogenesis-imperfecta-in-familial-hypomagnesaemia-and-hypercalciuria-with-nephrocalcinosis-caused-by-cldn19-gene-mutations\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Amelogenesis imperfecta in familial hypomagnesaemia and hypercalciuria with nephrocalcinosis caused by CLDN19 gene mutations (Contributed by Dr. Ana Carolina Acevedo) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Amelogenesis Imperfecta (AI) is a genetic condition characterized by tooth enamel quantitative or qualitative defects. The defects affect the enamel appearance, which can be chalky, discolored, thinner, pitted or grooved. Usually, a combination of different defects can be found within the same patient. In the last decade, studies have shown that AI may be associated [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2016\/08\/16\/amelogenesis-imperfecta-in-familial-hypomagnesaemia-and-hypercalciuria-with-nephrocalcinosis-caused-by-cldn19-gene-mutations\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2016-08-16T18:45:15+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-24T21:23:32+00:00\" \/>\n<meta name=\"author\" content=\"hqqu\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:creator\" content=\"@HuiQiQu\" \/>\n<meta name=\"twitter:label1\" content=\"Written by\" \/>\n\t<meta name=\"twitter:data1\" content=\"hqqu\" \/>\n\t<meta name=\"twitter:label2\" content=\"Est. reading time\" \/>\n\t<meta name=\"twitter:data2\" content=\"1 minute\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2016\\\/08\\\/16\\\/amelogenesis-imperfecta-in-familial-hypomagnesaemia-and-hypercalciuria-with-nephrocalcinosis-caused-by-cldn19-gene-mutations\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2016\\\/08\\\/16\\\/amelogenesis-imperfecta-in-familial-hypomagnesaemia-and-hypercalciuria-with-nephrocalcinosis-caused-by-cldn19-gene-mutations\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Amelogenesis imperfecta in familial hypomagnesaemia and hypercalciuria with nephrocalcinosis caused by CLDN19 gene mutations (Contributed by Dr. Ana Carolina Acevedo)\",\"datePublished\":\"2016-08-16T18:45:15+00:00\",\"dateModified\":\"2026-02-24T21:23:32+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2016\\\/08\\\/16\\\/amelogenesis-imperfecta-in-familial-hypomagnesaemia-and-hypercalciuria-with-nephrocalcinosis-caused-by-cldn19-gene-mutations\\\/\"},\"wordCount\":128,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2016\\\/08\\\/16\\\/amelogenesis-imperfecta-in-familial-hypomagnesaemia-and-hypercalciuria-with-nephrocalcinosis-caused-by-cldn19-gene-mutations\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2016\\\/08\\\/16\\\/amelogenesis-imperfecta-in-familial-hypomagnesaemia-and-hypercalciuria-with-nephrocalcinosis-caused-by-cldn19-gene-mutations\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2016\\\/08\\\/16\\\/amelogenesis-imperfecta-in-familial-hypomagnesaemia-and-hypercalciuria-with-nephrocalcinosis-caused-by-cldn19-gene-mutations\\\/\",\"name\":\"Amelogenesis imperfecta in familial hypomagnesaemia and hypercalciuria with nephrocalcinosis caused by CLDN19 gene mutations (Contributed by Dr. Ana Carolina Acevedo) - 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