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Hypomagnesaemia–hypercalciuria–nephrocalcinosis: a report of nine cases and a review
Background. The cardinal characteristics of primary hypomagnesaemia–hypercalciuria–nephrocalcinosis include renal magnesium wasting, marked hypercalciuria, renal stones, nephrocalcinosis, a tendency towards chronic renal insufficiency and sometimes even ocular abnormalities or hearing impairment. Me...
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| Published in: | Nephrology, dialysis, transplantation dialysis, transplantation, 2000-05, Vol.15 (5), p.605-610 |
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| container_issue | 5 |
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| container_title | Nephrology, dialysis, transplantation |
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| creator | Benigno, Vincenzo Canonica, Claudia S. Bettinelli, Alberto von Vigier, Rodo O. Truttmann, Anita C. Bianchetti, Mario G. |
| description | Background. The cardinal characteristics of primary hypomagnesaemia–hypercalciuria–nephrocalcinosis include renal magnesium wasting, marked hypercalciuria, renal stones, nephrocalcinosis, a tendency towards chronic renal insufficiency and sometimes even ocular abnormalities or hearing impairment. Methods. As very few patients with this syndrome have been described, we provide information on nine patients on follow‐up at our institutions and review the 42 cases reported in the literature (33 females and 18 males). Results. Urinary tract infections, polyuria–polydipsia, renal stones and tetanic convulsions were the main clinical findings at diagnosis. The clinical course was highly variable; renal failure was often reported. The concomitant occurrence of ocular involvement or hearing impairment was reported in a large subset of patients. Parental consanguinity was noted in some families. Conclusions. The results indicate an autosomal recessive inheritance. The diagnosis of primary hypomagnesaemia–hypercalciuria–nephrocalcinosis deserves consideration in any patient with nephrocalcinosis and hypercalciuria. |
| doi_str_mv | 10.1093/ndt/15.5.605 |
| format | article |
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The cardinal characteristics of primary hypomagnesaemia–hypercalciuria–nephrocalcinosis include renal magnesium wasting, marked hypercalciuria, renal stones, nephrocalcinosis, a tendency towards chronic renal insufficiency and sometimes even ocular abnormalities or hearing impairment. Methods. As very few patients with this syndrome have been described, we provide information on nine patients on follow‐up at our institutions and review the 42 cases reported in the literature (33 females and 18 males). Results. Urinary tract infections, polyuria–polydipsia, renal stones and tetanic convulsions were the main clinical findings at diagnosis. The clinical course was highly variable; renal failure was often reported. The concomitant occurrence of ocular involvement or hearing impairment was reported in a large subset of patients. Parental consanguinity was noted in some families. Conclusions. The results indicate an autosomal recessive inheritance. The diagnosis of primary hypomagnesaemia–hypercalciuria–nephrocalcinosis deserves consideration in any patient with nephrocalcinosis and hypercalciuria.</description><identifier>ISSN: 0931-0509</identifier><identifier>EISSN: 1460-2385</identifier><identifier>DOI: 10.1093/ndt/15.5.605</identifier><identifier>PMID: 10809799</identifier><identifier>CODEN: NDTREA</identifier><language>eng</language><publisher>Oxford: Oxford University Press</publisher><subject>Adolescent ; Adult ; Biological and medical sciences ; Calcium - blood ; Child ; Eye Diseases - complications ; Female ; Hearing Disorders - complications ; hereditary diseases ; Humans ; hypercalciuria ; kidney diseases ; Kidney Diseases - complications ; Magnesium - blood ; magnesium deficiency ; Male ; Medical sciences ; nephrocalcinosis ; Nephrocalcinosis - complications ; Nephrology. Urinary tract diseases ; Seizures - complications ; Syndrome ; Urinary lithiasis ; Urologic Diseases - complications</subject><ispartof>Nephrology, dialysis, transplantation, 2000-05, Vol.15 (5), p.605-610</ispartof><rights>2000 INIST-CNRS</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c392t-d9056389bf431f4f3cb155dd49a484aa0c886cbce9ffc55eab4c590b5df351e93</citedby><cites>FETCH-LOGICAL-c392t-d9056389bf431f4f3cb155dd49a484aa0c886cbce9ffc55eab4c590b5df351e93</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27924,27925</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=1353419$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/10809799$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Benigno, Vincenzo</creatorcontrib><creatorcontrib>Canonica, Claudia S.</creatorcontrib><creatorcontrib>Bettinelli, Alberto</creatorcontrib><creatorcontrib>von Vigier, Rodo O.</creatorcontrib><creatorcontrib>Truttmann, Anita C.</creatorcontrib><creatorcontrib>Bianchetti, Mario G.</creatorcontrib><title>Hypomagnesaemia–hypercalciuria–nephrocalcinosis: a report of nine cases and a review</title><title>Nephrology, dialysis, transplantation</title><addtitle>Nephrol. Dial. Transplant</addtitle><description>Background. The cardinal characteristics of primary hypomagnesaemia–hypercalciuria–nephrocalcinosis include renal magnesium wasting, marked hypercalciuria, renal stones, nephrocalcinosis, a tendency towards chronic renal insufficiency and sometimes even ocular abnormalities or hearing impairment. Methods. As very few patients with this syndrome have been described, we provide information on nine patients on follow‐up at our institutions and review the 42 cases reported in the literature (33 females and 18 males). Results. Urinary tract infections, polyuria–polydipsia, renal stones and tetanic convulsions were the main clinical findings at diagnosis. The clinical course was highly variable; renal failure was often reported. The concomitant occurrence of ocular involvement or hearing impairment was reported in a large subset of patients. Parental consanguinity was noted in some families. Conclusions. The results indicate an autosomal recessive inheritance. The diagnosis of primary hypomagnesaemia–hypercalciuria–nephrocalcinosis deserves consideration in any patient with nephrocalcinosis and hypercalciuria.</description><subject>Adolescent</subject><subject>Adult</subject><subject>Biological and medical sciences</subject><subject>Calcium - blood</subject><subject>Child</subject><subject>Eye Diseases - complications</subject><subject>Female</subject><subject>Hearing Disorders - complications</subject><subject>hereditary diseases</subject><subject>Humans</subject><subject>hypercalciuria</subject><subject>kidney diseases</subject><subject>Kidney Diseases - complications</subject><subject>Magnesium - blood</subject><subject>magnesium deficiency</subject><subject>Male</subject><subject>Medical sciences</subject><subject>nephrocalcinosis</subject><subject>Nephrocalcinosis - complications</subject><subject>Nephrology. Urinary tract diseases</subject><subject>Seizures - complications</subject><subject>Syndrome</subject><subject>Urinary lithiasis</subject><subject>Urologic Diseases - complications</subject><issn>0931-0509</issn><issn>1460-2385</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2000</creationdate><recordtype>article</recordtype><recordid>eNpN0MFO3DAQBmALgWCh3HpGOaCeyGKvM0ncG4XSRVqJHloJcbEmzriYbpxgZ4G99R36hn2Sht0VcBpp_k__4Wfso-BjwZU89XV_KmAM45zDFhuJLOfpRJawzUZDLFIOXO2x_RjvOedqUhS7bE_wkqtCqRG7mS67tsFfniJS4_Dfn793y46Cwblxi7B6eOruQrv6-Da6-DnBJFDXhj5pbeKdp8RgpJigr1fRo6OnD2zH4jzS4eYesJ-XX3-cT9PZ9ber87NZaqSa9GmtOOSyVJXNpLCZlaYSAHWdKczKDJGbssxNZUhZawAIq8yA4hXUVoIgJQ_Yp3VvF9qHBcVeNy4ams_RU7uIuhCC55MCBniyhia0MQayuguuwbDUguuXJfWwpBagQQ9LDvxo07uoGqrf4fV0AzjeAIzDNjagNy6-OQkyEy8sXTMXe3p-jTH81nkhC9DTm1t98b1Ql7Nc6C_yP90SjnY</recordid><startdate>20000501</startdate><enddate>20000501</enddate><creator>Benigno, Vincenzo</creator><creator>Canonica, Claudia S.</creator><creator>Bettinelli, Alberto</creator><creator>von Vigier, Rodo O.</creator><creator>Truttmann, Anita C.</creator><creator>Bianchetti, Mario G.</creator><general>Oxford University Press</general><scope>BSCLL</scope><scope>IQODW</scope><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>7X8</scope></search><sort><creationdate>20000501</creationdate><title>Hypomagnesaemia–hypercalciuria–nephrocalcinosis: a report of nine cases and a review</title><author>Benigno, Vincenzo ; Canonica, Claudia S. ; Bettinelli, Alberto ; von Vigier, Rodo O. ; Truttmann, Anita C. ; Bianchetti, Mario G.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c392t-d9056389bf431f4f3cb155dd49a484aa0c886cbce9ffc55eab4c590b5df351e93</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2000</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>Biological and medical sciences</topic><topic>Calcium - blood</topic><topic>Child</topic><topic>Eye Diseases - complications</topic><topic>Female</topic><topic>Hearing Disorders - complications</topic><topic>hereditary diseases</topic><topic>Humans</topic><topic>hypercalciuria</topic><topic>kidney diseases</topic><topic>Kidney Diseases - complications</topic><topic>Magnesium - blood</topic><topic>magnesium deficiency</topic><topic>Male</topic><topic>Medical sciences</topic><topic>nephrocalcinosis</topic><topic>Nephrocalcinosis - complications</topic><topic>Nephrology. Urinary tract diseases</topic><topic>Seizures - complications</topic><topic>Syndrome</topic><topic>Urinary lithiasis</topic><topic>Urologic Diseases - complications</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Benigno, Vincenzo</creatorcontrib><creatorcontrib>Canonica, Claudia S.</creatorcontrib><creatorcontrib>Bettinelli, Alberto</creatorcontrib><creatorcontrib>von Vigier, Rodo O.</creatorcontrib><creatorcontrib>Truttmann, Anita C.</creatorcontrib><creatorcontrib>Bianchetti, Mario G.</creatorcontrib><collection>Istex</collection><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Nephrology, dialysis, transplantation</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Benigno, Vincenzo</au><au>Canonica, Claudia S.</au><au>Bettinelli, Alberto</au><au>von Vigier, Rodo O.</au><au>Truttmann, Anita C.</au><au>Bianchetti, Mario G.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Hypomagnesaemia–hypercalciuria–nephrocalcinosis: a report of nine cases and a review</atitle><jtitle>Nephrology, dialysis, transplantation</jtitle><addtitle>Nephrol. Dial. Transplant</addtitle><date>2000-05-01</date><risdate>2000</risdate><volume>15</volume><issue>5</issue><spage>605</spage><epage>610</epage><pages>605-610</pages><issn>0931-0509</issn><eissn>1460-2385</eissn><coden>NDTREA</coden><abstract>Background. The cardinal characteristics of primary hypomagnesaemia–hypercalciuria–nephrocalcinosis include renal magnesium wasting, marked hypercalciuria, renal stones, nephrocalcinosis, a tendency towards chronic renal insufficiency and sometimes even ocular abnormalities or hearing impairment. Methods. As very few patients with this syndrome have been described, we provide information on nine patients on follow‐up at our institutions and review the 42 cases reported in the literature (33 females and 18 males). Results. Urinary tract infections, polyuria–polydipsia, renal stones and tetanic convulsions were the main clinical findings at diagnosis. The clinical course was highly variable; renal failure was often reported. The concomitant occurrence of ocular involvement or hearing impairment was reported in a large subset of patients. Parental consanguinity was noted in some families. Conclusions. The results indicate an autosomal recessive inheritance. The diagnosis of primary hypomagnesaemia–hypercalciuria–nephrocalcinosis deserves consideration in any patient with nephrocalcinosis and hypercalciuria.</abstract><cop>Oxford</cop><pub>Oxford University Press</pub><pmid>10809799</pmid><doi>10.1093/ndt/15.5.605</doi><tpages>6</tpages><oa>free_for_read</oa></addata></record> |
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| source | Oxford Journals Online |
| subjects | Adolescent Adult Biological and medical sciences Calcium - blood Child Eye Diseases - complications Female Hearing Disorders - complications hereditary diseases Humans hypercalciuria kidney diseases Kidney Diseases - complications Magnesium - blood magnesium deficiency Male Medical sciences nephrocalcinosis Nephrocalcinosis - complications Nephrology. Urinary tract diseases Seizures - complications Syndrome Urinary lithiasis Urologic Diseases - complications |
| title | Hypomagnesaemia–hypercalciuria–nephrocalcinosis: a report of nine cases and a review |
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