Atypical presentation of familial hypomagnesemia with hypercalciuria and nephrocalcinosis in a patient with a new claudin-16 gene mutation
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is an autosomal recessive tubular disorder caused by mutations in genes that encode renal tight junction proteins claudin-16 or claudin-19, which are responsible for magnesium and calcium paracellular reabsorption in the thick...
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| Veröffentlicht in: | Clinical nephrology. Case studies 2019-05, Vol.7 (1), p.27-34 |
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| container_title | Clinical nephrology. Case studies |
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| creator | Vianna, Júlia Guasti P Simor, Thiago Gabriel Senna, Pamella De Bortoli, Michell Roncete Costalonga, Everlayny Fiorot Seguro, Antonio Carlos Luchi, Weverton Machado |
| description | Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is an autosomal recessive tubular disorder caused by mutations in genes that encode renal tight junction proteins claudin-16 or claudin-19, which are responsible for magnesium and calcium paracellular reabsorption in the thick ascending limb of Henle's loop. Progressive renal failure is frequently present, and most of the patients require renal replacement therapy still during adolescence. In this case report, we describe a new homozygous missense mutation on
gene (c.592G>C, Gly198Arg) in a 24-year-old male patient diagnosed with FHHNC after clinical investigation due to incidental detection of altered routine laboratorial tests, who was firstly misdiagnosed with primary hyperparathyroidism. In addition, it illustrates an atypical presentation of this disease, with late onset of chronic kidney disease, improving the phenotype-genotype knowledge of patients with FHHNC. |
| doi_str_mv | 10.5414/CNCS109595 |
| format | Article |
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gene (c.592G>C, Gly198Arg) in a 24-year-old male patient diagnosed with FHHNC after clinical investigation due to incidental detection of altered routine laboratorial tests, who was firstly misdiagnosed with primary hyperparathyroidism. In addition, it illustrates an atypical presentation of this disease, with late onset of chronic kidney disease, improving the phenotype-genotype knowledge of patients with FHHNC.</description><identifier>ISSN: 2196-5293</identifier><identifier>EISSN: 2196-5293</identifier><identifier>DOI: 10.5414/CNCS109595</identifier><identifier>PMID: 31119091</identifier><language>eng</language><publisher>Germany: Dustri - Verlag Dr. Karl Feistle GmbH & Co. KG</publisher><subject>Abdomen ; Case Report ; Case reports ; Child development ; Creatinine ; Endocrinology ; Genes ; Internal medicine ; Kidney diseases ; Kidney stones ; Laboratories ; Medicine ; Mutation ; Nephrology ; Patients ; Phosphorus ; Potassium ; Proteins ; Uric acid</subject><ispartof>Clinical nephrology. Case studies, 2019-05, Vol.7 (1), p.27-34</ispartof><rights>Copyright Dustri - Verlag Dr. Karl Feistle GmbH & Co. KG 2019</rights><rights>Dustri-Verlag Dr. K. Feistle 2019</rights><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c2185-4653b2131487c19304fe11368dc9e587fe4446540e26fb6e17fc660ed5d8a7553</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC6528384/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC6528384/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,723,776,780,881,27901,27902,53766,53768</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/31119091$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Vianna, Júlia Guasti P</creatorcontrib><creatorcontrib>Simor, Thiago Gabriel</creatorcontrib><creatorcontrib>Senna, Pamella</creatorcontrib><creatorcontrib>De Bortoli, Michell Roncete</creatorcontrib><creatorcontrib>Costalonga, Everlayny Fiorot</creatorcontrib><creatorcontrib>Seguro, Antonio Carlos</creatorcontrib><creatorcontrib>Luchi, Weverton Machado</creatorcontrib><title>Atypical presentation of familial hypomagnesemia with hypercalciuria and nephrocalcinosis in a patient with a new claudin-16 gene mutation</title><title>Clinical nephrology. Case studies</title><addtitle>Clin Nephrol Case Stud</addtitle><description>Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is an autosomal recessive tubular disorder caused by mutations in genes that encode renal tight junction proteins claudin-16 or claudin-19, which are responsible for magnesium and calcium paracellular reabsorption in the thick ascending limb of Henle's loop. Progressive renal failure is frequently present, and most of the patients require renal replacement therapy still during adolescence. In this case report, we describe a new homozygous missense mutation on
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gene (c.592G>C, Gly198Arg) in a 24-year-old male patient diagnosed with FHHNC after clinical investigation due to incidental detection of altered routine laboratorial tests, who was firstly misdiagnosed with primary hyperparathyroidism. In addition, it illustrates an atypical presentation of this disease, with late onset of chronic kidney disease, improving the phenotype-genotype knowledge of patients with FHHNC.</abstract><cop>Germany</cop><pub>Dustri - Verlag Dr. Karl Feistle GmbH & Co. KG</pub><pmid>31119091</pmid><doi>10.5414/CNCS109595</doi><tpages>8</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | Abdomen Case Report Case reports Child development Creatinine Endocrinology Genes Internal medicine Kidney diseases Kidney stones Laboratories Medicine Mutation Nephrology Patients Phosphorus Potassium Proteins Uric acid |
| title | Atypical presentation of familial hypomagnesemia with hypercalciuria and nephrocalcinosis in a patient with a new claudin-16 gene mutation |
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