Phenotypic Variation in a Large Family with Autosomal Dominant Hypocalcaemia
Background/Aims: Autosomal dominant hypocalcaemia (ADH) is caused by activating mutations in the calcium- sensing receptor (CASR). We aimed to describe the phenotypic variation within a large family with ADH, especially kidney and cerebral basal ganglia calcifications. Methods: Fifteen related subje...
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| Veröffentlicht in: | Hormone research in paediatrics 2010-01, Vol.74 (6), p.399-405 |
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| creator | Sørheim, J.I. Husebye, E.S. Nedrebø, B.G. Svarstad, E. Lind, J. Boman, H. Løvås, K. |
| description | Background/Aims: Autosomal dominant hypocalcaemia (ADH) is caused by activating mutations in the calcium- sensing receptor (CASR). We aimed to describe the phenotypic variation within a large family with ADH, especially kidney and cerebral basal ganglia calcifications. Methods: Fifteen related subjects carrying the CASR mutation T151M participated in a cross-sectional study of calcium homeostasis, renal ultrasonography, cerebral CT, bone mineral density, and health-related quality of life (HRQoL). Results: Eight subjects had received vitamin D treatment (mean duration 15.3 years; range 11–20 years). Urinary calcium excretion was elevated in 5/8 vitamin-D-treated and in 3/7 untreated subjects. Serum magnesium, calcium and parathyroid hormone remained at the lower reference limit or below. Renal calcifications were found in 12 of 14 (86%) and basal ganglia calcifications in 5 of 11 (46%) subjects, independently of vitamin D therapy. The glomerular filtration rate was moderately reduced in 3 subjects. Mean bone mineral density and bone markers were normal. HRQoL was impaired in the vitamin-D-treated group despite correction of the hypocalcaemia. Conclusions: The impact of the CASR mutation on calcium homeostasis varied greatly. Kidney and basal ganglia calcifications are common in ADH independently of vitamin D treatment, which, however, increases urinary calcium excretion and may promote urolithiasis. |
| doi_str_mv | 10.1159/000303188 |
| format | Article |
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We aimed to describe the phenotypic variation within a large family with ADH, especially kidney and cerebral basal ganglia calcifications. Methods: Fifteen related subjects carrying the CASR mutation T151M participated in a cross-sectional study of calcium homeostasis, renal ultrasonography, cerebral CT, bone mineral density, and health-related quality of life (HRQoL). Results: Eight subjects had received vitamin D treatment (mean duration 15.3 years; range 11–20 years). Urinary calcium excretion was elevated in 5/8 vitamin-D-treated and in 3/7 untreated subjects. Serum magnesium, calcium and parathyroid hormone remained at the lower reference limit or below. Renal calcifications were found in 12 of 14 (86%) and basal ganglia calcifications in 5 of 11 (46%) subjects, independently of vitamin D therapy. The glomerular filtration rate was moderately reduced in 3 subjects. Mean bone mineral density and bone markers were normal. HRQoL was impaired in the vitamin-D-treated group despite correction of the hypocalcaemia. Conclusions: The impact of the CASR mutation on calcium homeostasis varied greatly. Kidney and basal ganglia calcifications are common in ADH independently of vitamin D treatment, which, however, increases urinary calcium excretion and may promote urolithiasis.</description><identifier>ISSN: 1663-2818</identifier><identifier>EISSN: 1663-2826</identifier><identifier>DOI: 10.1159/000303188</identifier><identifier>PMID: 20501971</identifier><language>eng</language><publisher>Basel, Switzerland: S. Karger AG</publisher><subject>Adolescent ; Adult ; Aged ; Bone Density - genetics ; Calcinosis - genetics ; Calcium - metabolism ; Calcium - urine ; Cerebrum - metabolism ; Cerebrum - pathology ; Cross-Sectional Studies ; Female ; Humans ; Hypocalcemia - genetics ; Hypocalcemia - metabolism ; Hypocalcemia - pathology ; Hypocalcemia - urine ; Kidney - diagnostic imaging ; Kidney - metabolism ; Kidney - pathology ; Male ; Middle Aged ; Mutation ; Original Paper ; Parathyroid Hormone - blood ; Pedigree ; Phenotype ; Receptors, Calcium-Sensing - genetics ; Receptors, Calcium-Sensing - metabolism ; Sequence Analysis, DNA ; Statistics, Nonparametric ; Ultrasonography ; Young Adult</subject><ispartof>Hormone research in paediatrics, 2010-01, Vol.74 (6), p.399-405</ispartof><rights>2010 S. Karger AG, Basel</rights><rights>Copyright © 2010 S. Karger AG, Basel.</rights><rights>Copyright (c) 2010 S. Karger AG, Basel</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c333t-c014debda6757f128430adb998fa2bdfc0ba546b3fe2c88ba6b5aa203dabe303</citedby><cites>FETCH-LOGICAL-c333t-c014debda6757f128430adb998fa2bdfc0ba546b3fe2c88ba6b5aa203dabe303</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780,2423,27901,27902</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/20501971$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Sørheim, J.I.</creatorcontrib><creatorcontrib>Husebye, E.S.</creatorcontrib><creatorcontrib>Nedrebø, B.G.</creatorcontrib><creatorcontrib>Svarstad, E.</creatorcontrib><creatorcontrib>Lind, J.</creatorcontrib><creatorcontrib>Boman, H.</creatorcontrib><creatorcontrib>Løvås, K.</creatorcontrib><title>Phenotypic Variation in a Large Family with Autosomal Dominant Hypocalcaemia</title><title>Hormone research in paediatrics</title><addtitle>Horm Res Paediatr</addtitle><description>Background/Aims: Autosomal dominant hypocalcaemia (ADH) is caused by activating mutations in the calcium- sensing receptor (CASR). We aimed to describe the phenotypic variation within a large family with ADH, especially kidney and cerebral basal ganglia calcifications. Methods: Fifteen related subjects carrying the CASR mutation T151M participated in a cross-sectional study of calcium homeostasis, renal ultrasonography, cerebral CT, bone mineral density, and health-related quality of life (HRQoL). Results: Eight subjects had received vitamin D treatment (mean duration 15.3 years; range 11–20 years). Urinary calcium excretion was elevated in 5/8 vitamin-D-treated and in 3/7 untreated subjects. Serum magnesium, calcium and parathyroid hormone remained at the lower reference limit or below. Renal calcifications were found in 12 of 14 (86%) and basal ganglia calcifications in 5 of 11 (46%) subjects, independently of vitamin D therapy. The glomerular filtration rate was moderately reduced in 3 subjects. Mean bone mineral density and bone markers were normal. HRQoL was impaired in the vitamin-D-treated group despite correction of the hypocalcaemia. Conclusions: The impact of the CASR mutation on calcium homeostasis varied greatly. Kidney and basal ganglia calcifications are common in ADH independently of vitamin D treatment, which, however, increases urinary calcium excretion and may promote urolithiasis.</description><subject>Adolescent</subject><subject>Adult</subject><subject>Aged</subject><subject>Bone Density - genetics</subject><subject>Calcinosis - genetics</subject><subject>Calcium - metabolism</subject><subject>Calcium - urine</subject><subject>Cerebrum - metabolism</subject><subject>Cerebrum - pathology</subject><subject>Cross-Sectional Studies</subject><subject>Female</subject><subject>Humans</subject><subject>Hypocalcemia - genetics</subject><subject>Hypocalcemia - metabolism</subject><subject>Hypocalcemia - pathology</subject><subject>Hypocalcemia - urine</subject><subject>Kidney - diagnostic imaging</subject><subject>Kidney - metabolism</subject><subject>Kidney - pathology</subject><subject>Male</subject><subject>Middle Aged</subject><subject>Mutation</subject><subject>Original Paper</subject><subject>Parathyroid Hormone - blood</subject><subject>Pedigree</subject><subject>Phenotype</subject><subject>Receptors, Calcium-Sensing - genetics</subject><subject>Receptors, Calcium-Sensing - metabolism</subject><subject>Sequence Analysis, DNA</subject><subject>Statistics, Nonparametric</subject><subject>Ultrasonography</subject><subject>Young Adult</subject><issn>1663-2818</issn><issn>1663-2826</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2010</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>BENPR</sourceid><recordid>eNpd0D1PwzAQBmALgWhVOrAjZIkBMRTsOB_OiAqlSJFgqFijs-NQlyQOdiKUf4-rlgwsPg_Pne5ehC4puac0Sh8IIYwwyvkJmtI4ZouAB_Hp-Kd8gubO7cje8SSlyTmaBCQiNE3oFGXvW9WYbmi1xB9gNXTaNFg3GHAG9lPhFdS6GvCP7rb4se-MMzVU-MnUuoGmw-uhNRIqCarWcIHOSqicmh_rDG1Wz5vlepG9vbwuH7OFZIx1C0loWChRQJxESUkDHjIChUhTXkIgilISAVEYC1aqQHIuIBYRQEBYAUL5W2fo9jC2tea7V67La-2kqipolOld7m-OQ8pT5uXNP7kzvW38bjklnMZp6B-v7g5KWuOcVWXeWl2DHTzK9xnnY8beXh8n9qJWxSj_EvXg6gC-9vHZERz7fwFKn37L</recordid><startdate>20100101</startdate><enddate>20100101</enddate><creator>Sørheim, J.I.</creator><creator>Husebye, E.S.</creator><creator>Nedrebø, B.G.</creator><creator>Svarstad, E.</creator><creator>Lind, J.</creator><creator>Boman, H.</creator><creator>Løvås, K.</creator><general>S. Karger AG</general><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>3V.</scope><scope>7RV</scope><scope>7U7</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8AO</scope><scope>8FD</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BENPR</scope><scope>C1K</scope><scope>CCPQU</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>K9-</scope><scope>K9.</scope><scope>KB0</scope><scope>M0R</scope><scope>M0S</scope><scope>M1P</scope><scope>NAPCQ</scope><scope>P64</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>20100101</creationdate><title>Phenotypic Variation in a Large Family with Autosomal Dominant Hypocalcaemia</title><author>Sørheim, J.I. ; Husebye, E.S. ; Nedrebø, B.G. ; Svarstad, E. ; Lind, J. ; Boman, H. ; Løvås, K.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c333t-c014debda6757f128430adb998fa2bdfc0ba546b3fe2c88ba6b5aa203dabe303</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2010</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>Aged</topic><topic>Bone Density - genetics</topic><topic>Calcinosis - genetics</topic><topic>Calcium - metabolism</topic><topic>Calcium - urine</topic><topic>Cerebrum - metabolism</topic><topic>Cerebrum - pathology</topic><topic>Cross-Sectional Studies</topic><topic>Female</topic><topic>Humans</topic><topic>Hypocalcemia - genetics</topic><topic>Hypocalcemia - metabolism</topic><topic>Hypocalcemia - pathology</topic><topic>Hypocalcemia - urine</topic><topic>Kidney - diagnostic imaging</topic><topic>Kidney - metabolism</topic><topic>Kidney - pathology</topic><topic>Male</topic><topic>Middle Aged</topic><topic>Mutation</topic><topic>Original Paper</topic><topic>Parathyroid Hormone - blood</topic><topic>Pedigree</topic><topic>Phenotype</topic><topic>Receptors, Calcium-Sensing - genetics</topic><topic>Receptors, Calcium-Sensing - metabolism</topic><topic>Sequence Analysis, DNA</topic><topic>Statistics, Nonparametric</topic><topic>Ultrasonography</topic><topic>Young Adult</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Sørheim, J.I.</creatorcontrib><creatorcontrib>Husebye, E.S.</creatorcontrib><creatorcontrib>Nedrebø, B.G.</creatorcontrib><creatorcontrib>Svarstad, E.</creatorcontrib><creatorcontrib>Lind, J.</creatorcontrib><creatorcontrib>Boman, H.</creatorcontrib><creatorcontrib>Løvås, K.</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Nursing & Allied Health Database</collection><collection>Toxicology Abstracts</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>ProQuest Pharma Collection</collection><collection>Technology Research Database</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>ProQuest Central</collection><collection>Environmental Sciences and Pollution Management</collection><collection>ProQuest One Community College</collection><collection>Engineering Research Database</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>Consumer Health Database (Alumni Edition)</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Nursing & Allied Health Database (Alumni Edition)</collection><collection>Consumer Health Database</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Nursing & Allied Health Premium</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Hormone research in paediatrics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Sørheim, J.I.</au><au>Husebye, E.S.</au><au>Nedrebø, B.G.</au><au>Svarstad, E.</au><au>Lind, J.</au><au>Boman, H.</au><au>Løvås, K.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Phenotypic Variation in a Large Family with Autosomal Dominant Hypocalcaemia</atitle><jtitle>Hormone research in paediatrics</jtitle><addtitle>Horm Res Paediatr</addtitle><date>2010-01-01</date><risdate>2010</risdate><volume>74</volume><issue>6</issue><spage>399</spage><epage>405</epage><pages>399-405</pages><issn>1663-2818</issn><eissn>1663-2826</eissn><abstract>Background/Aims: Autosomal dominant hypocalcaemia (ADH) is caused by activating mutations in the calcium- sensing receptor (CASR). We aimed to describe the phenotypic variation within a large family with ADH, especially kidney and cerebral basal ganglia calcifications. Methods: Fifteen related subjects carrying the CASR mutation T151M participated in a cross-sectional study of calcium homeostasis, renal ultrasonography, cerebral CT, bone mineral density, and health-related quality of life (HRQoL). Results: Eight subjects had received vitamin D treatment (mean duration 15.3 years; range 11–20 years). Urinary calcium excretion was elevated in 5/8 vitamin-D-treated and in 3/7 untreated subjects. Serum magnesium, calcium and parathyroid hormone remained at the lower reference limit or below. Renal calcifications were found in 12 of 14 (86%) and basal ganglia calcifications in 5 of 11 (46%) subjects, independently of vitamin D therapy. The glomerular filtration rate was moderately reduced in 3 subjects. Mean bone mineral density and bone markers were normal. HRQoL was impaired in the vitamin-D-treated group despite correction of the hypocalcaemia. Conclusions: The impact of the CASR mutation on calcium homeostasis varied greatly. Kidney and basal ganglia calcifications are common in ADH independently of vitamin D treatment, which, however, increases urinary calcium excretion and may promote urolithiasis.</abstract><cop>Basel, Switzerland</cop><pub>S. Karger AG</pub><pmid>20501971</pmid><doi>10.1159/000303188</doi><tpages>7</tpages></addata></record> |
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| subjects | Adolescent Adult Aged Bone Density - genetics Calcinosis - genetics Calcium - metabolism Calcium - urine Cerebrum - metabolism Cerebrum - pathology Cross-Sectional Studies Female Humans Hypocalcemia - genetics Hypocalcemia - metabolism Hypocalcemia - pathology Hypocalcemia - urine Kidney - diagnostic imaging Kidney - metabolism Kidney - pathology Male Middle Aged Mutation Original Paper Parathyroid Hormone - blood Pedigree Phenotype Receptors, Calcium-Sensing - genetics Receptors, Calcium-Sensing - metabolism Sequence Analysis, DNA Statistics, Nonparametric Ultrasonography Young Adult |
| title | Phenotypic Variation in a Large Family with Autosomal Dominant Hypocalcaemia |
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