{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T14:17:43Z","timestamp":1784557063515,"version":"3.55.0"},"reference-count":50,"publisher":"Bioscientifica","license":[{"start":{"date-parts":[[2018,3,21]],"date-time":"2018-03-21T00:00:00Z","timestamp":1521590400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/deed.en_GB"}],"content-domain":{"domain":["edm.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2018,3,21]]},"abstract":"Summary<\/jats:title>\n \n 29-year-old female presenting with an 8-year history of unexplained hypomagnesaemia, which was severe enough to warrant intermittent inpatient admission for intravenous magnesium. Urinary magnesium was inappropriately normal in the context of hypomagnesaemia indicating magnesium wasting. Ultrasound imaging demonstrated unilateral renal cysts and computed tomography of kidneys, ureters and bladder showed a bicornuate uterus. Referral to genetic services and subsequent testing revealed a\n de novo HNF1B<\/jats:italic>\n deletion.\n <\/jats:p>\n \n Learning points:<\/jats:title>\n \n \n \n HNF1B<\/jats:italic>\n loss-of-function mutations are one of the most common monogenic causes of congenital anomalies of the kidney and urinary tract.\n <\/jats:p>\n <\/jats:list-item>\n \n \n Those with\n HNF1B<\/jats:italic>\n mutations may have some of a constellation of features (renal and hepatic cysts, deranged liver function tests, maturity onset diabetes of the young type 5 (MODY5), bicornuate uterus, hyperparathyroidism, hyperuricaemic gout, but presenting features are highly heterogeneous amongst patients and no genotype\/phenotype correlation exists.\n <\/jats:p>\n <\/jats:list-item>\n \n \n HNF1B<\/jats:italic>\n mutations are inherited in an autosomal dominant pattern but up to 50% of cases are\n de novo.<\/jats:italic>\n <\/jats:p>\n <\/jats:list-item>\n \n \n HNF1B<\/jats:italic>\n mutations can be part of the Chr17q12 deletion syndrome, a contiguous gene deletion syndrome.\n <\/jats:p>\n <\/jats:list-item>\n \n Inorganic oral magnesium replacements are generally poorly tolerated with side effects of diarrhoea. Organic magnesium compounds, such as magnesium aspartate, are better absorbed oral replacement therapies.<\/jats:p>\n <\/jats:list-item>\n <\/jats:list>\n <\/jats:sec>","DOI":"10.1530\/edm-17-0120","type":"journal-article","created":{"date-parts":[[2018,3,21]],"date-time":"2018-03-21T09:52:16Z","timestamp":1521625936000},"update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-2","source":"Crossref","is-referenced-by-count":7,"title":["De novo HNF1 homeobox B mutation as a cause for chronic, treatment-resistant hypomagnesaemia"],"prefix":"10.1530","volume":"2018","author":[{"given":"C E","family":"Stiles","sequence":"first","affiliation":[{"name":"1Department of EndocrinologyWilliam Harvey Research Institute, Barts and the London School of Medicine, Queen Mary University of London, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R","family":"Thuraisingham","sequence":"additional","affiliation":[{"name":"2Department of NephrologyBarts Health NHS Trust, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D","family":"Bockenhauer","sequence":"additional","affiliation":[{"name":"3UCL centre for Nephrology and Great Ormond Street Hospital NHS TrustLondon, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L","family":"Platts","sequence":"additional","affiliation":[{"name":"4North East Thames Regional Genetics LaboratoryGreat Ormond Street Hospital NHS Trust, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A V","family":"Kumar","sequence":"additional","affiliation":[{"name":"5North East Thames Regional Genetics ServiceGreat Ormond Street Hospital NHS Trust, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Korbonits","sequence":"additional","affiliation":[{"name":"1Department of EndocrinologyWilliam Harvey Research Institute, Barts and the London School of Medicine, Queen Mary University of London, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"416","reference":[{"key":"ref381","doi-asserted-by":"crossref","first-page":"483","DOI":"10.1097\/MNH.0b013e32833b7125","article-title":"Claudin-16 and claudin-19 function in the thick ascending limb","volume":"19","year":"2010","journal-title":"Current Opinion in Nephrology and Hypertension"},{"key":"ref491","doi-asserted-by":"crossref","first-page":"1243","DOI":"10.1046\/j.1523-1755.2002.00272.x","article-title":"Solitary functioning kidney and diverse genital tract malformations associated with hepatocyte nuclear factor-1beta mutations","volume":"61","year":"2002","journal-title":"Kidney International"},{"key":"ref161","first-page":"215","article-title":"Study of magnesium bioavailability from ten organic and inorganic Mg salts in Mg-depleted rats using a stable isotope approach","volume":"18","year":"2005","journal-title":"Magnesium Research"},{"key":"ref51","first-page":"2","article-title":"Renal MODY-fier genes","volume":"307","year":"2014","journal-title":"American Journal of Physiology"},{"key":"ref311","doi-asserted-by":"crossref","first-page":"1829","DOI":"10.1242\/dev.129.8.1829","article-title":"Bile system morphogenesis defects and liver dysfunction upon targeted deletion of HNF1beta","volume":"129","year":"2002","journal-title":"Development"},{"key":"ref201","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1016\/j.ydbio.2014.01.025","article-title":"Lhx1 is required in M\u00fcllerian duct epithelium for uterine development","volume":"389","year":"2014","journal-title":"Developmental Biolology"},{"key":"ref111","doi-asserted-by":"crossref","first-page":"483","DOI":"10.1097\/MNH.0b013e32833b7125","article-title":"Claudin-16 and claudin-19 function in the thick ascending limb","volume":"19","year":"2010","journal-title":"Current Opinion in Nephrology and Hypertension"},{"key":"ref521","year":"2006","journal-title":"GeneReviews((R))"},{"key":"ref61","doi-asserted-by":"crossref","first-page":"1123","DOI":"10.1681\/ASN.2008060633","article-title":"HNF1B mutations associate with hypomagnesemia and renal magnesium wasting","volume":"20","year":"2009","journal-title":"Journal of the American Society of Nephrology"},{"key":"ref341","doi-asserted-by":"crossref","first-page":"2872","DOI":"10.1093\/humrep\/des206","article-title":"Frame shift mutation of LHX1 is associated with Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome","volume":"27","year":"2012","journal-title":"Human Reproduction"},{"key":"ref481","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1186\/1471-213X-11-5","article-title":"The nephrogenic potential of the transcription factors osr1, osr2, hnf1b, lhx1 and pax8 assessed in Xenopus animal caps","volume":"11","year":"2011","journal-title":"BMC Developmental Biology"},{"key":"ref31","doi-asserted-by":"crossref","first-page":"1179","DOI":"10.2215\/CJN.10221012","article-title":"Severe prenatal renal anomalies associated with mutations in HNF1B or PAX2 genes","volume":"8","year":"2013","journal-title":"Clinical Journal of the American Society of Nephrology"},{"key":"ref151","doi-asserted-by":"crossref","first-page":"28565","DOI":"10.1038\/srep28565","article-title":"Identification of SLC41A3 as a novel player in magnesium homeostasis","volume":"6","year":"2016","journal-title":"Scientific Reports"},{"key":"ref141","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1684\/mrh.2015.0388","article-title":"The art of magnesium transport","volume":"28","year":"2015","journal-title":"Magnesium Research"},{"key":"ref361","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1159\/000439286","article-title":"Hypomagnesemia as first clinical manifestation of ADTKD-HNF1B: a case series and literature review","volume":"42","year":"2015","journal-title":"American Journal of Nephrology"},{"key":"ref471","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1016\/j.ydbio.2014.01.025","article-title":"Lhx1 is required in M\u00fcllerian duct epithelium for uterine development","volume":"389","year":"2014","journal-title":"Developmental Biolology"},{"key":"ref281","doi-asserted-by":"crossref","first-page":"2864","DOI":"10.1681\/ASN.2006030277","article-title":"Prevalence of mutations in renal developmental genes in children with renal hypodysplasia: results of the ESCAPE study","volume":"17","year":"2006","journal-title":"Journal of the American Society of Nephrology"},{"key":"ref391","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1007\/s10863-005-9475-y","article-title":"Splice variants of the gamma subunit (FXYD2) and their significance in regulation of the Na, K-ATPase in kidney","volume":"37","year":"2005","journal-title":"Journal of Bioenergetics and Biomembranes"},{"key":"ref511","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1093\/humupd\/7.2.161","article-title":"Clinical implications of uterine malformations and hysteroscopic treatment results","volume":"7","year":"2001","journal-title":"Human Reproduction Update"},{"key":"ref71","doi-asserted-by":"crossref","first-page":"2872","DOI":"10.1093\/humrep\/des206","article-title":"Frame shift mutation of LHX1 is associated with Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome","volume":"27","year":"2012","journal-title":"Human Reproduction"},{"key":"ref261","doi-asserted-by":"crossref","first-page":"136","DOI":"10.5808\/GI.2014.12.4.136","article-title":"Genome architecture and its roles in human copy number variation","volume":"12","year":"2014","journal-title":"Genomics and Informatics"},{"key":"ref191","doi-asserted-by":"crossref","first-page":"1057","DOI":"10.1086\/522591","article-title":"Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy","volume":"81","year":"2007","journal-title":"American Journal of Human Genetics"},{"key":"ref291","doi-asserted-by":"crossref","first-page":"897","DOI":"10.1007\/s00467-011-1826-9","article-title":"HNF1B and PAX2 mutations are a common cause of renal hypodysplasia in the CKiD cohort","volume":"26","year":"2011","journal-title":"Pediatric Nephrology"},{"key":"ref301","doi-asserted-by":"crossref","first-page":"1179","DOI":"10.2215\/CJN.10221012","article-title":"Severe prenatal renal anomalies associated with mutations in HNF1B or PAX2 genes","volume":"8","year":"2013","journal-title":"Clinical Journal of the American Society of Nephrology"},{"key":"ref321","first-page":"2","article-title":"Renal MODY-fier genes","volume":"307","year":"2014","journal-title":"American Journal of Physiology"},{"key":"ref131","first-page":"318","article-title":"RontgenM Human gene encodes for the Na Mg exchanger of - https doi org","volume":"41","journal-title":"American Journal Physiology Cell Physiology"},{"key":"ref01","doi-asserted-by":"crossref","first-page":"695","DOI":"10.1007\/s00467-013-2684-4","article-title":"Single-gene causes of congenital anomalies of the kidney and urinary tract (CAKUT) in humans","volume":"29","year":"2014","journal-title":"Pediatric Nephrology"},{"key":"ref331","doi-asserted-by":"crossref","first-page":"1123","DOI":"10.1681\/ASN.2008060633","article-title":"HNF1B mutations associate with hypomagnesemia and renal magnesium wasting","volume":"20","year":"2009","journal-title":"Journal of the American Society of Nephrology"},{"key":"ref121","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1007\/s10863-005-9475-y","article-title":"Splice variants of the gamma subunit (FXYD2) and their significance in regulation of the Na, K-ATPase in kidney","volume":"37","year":"2005","journal-title":"Journal of Bioenergetics and Biomembranes"},{"key":"ref241","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1093\/humupd\/7.2.161","article-title":"Clinical implications of uterine malformations and hysteroscopic treatment results","volume":"7","year":"2001","journal-title":"Human Reproduction Update"},{"key":"ref421","doi-asserted-by":"crossref","first-page":"28565","DOI":"10.1038\/srep28565","article-title":"Identification of SLC41A3 as a novel player in magnesium homeostasis","volume":"6","year":"2016","journal-title":"Scientific Reports"},{"key":"ref271","doi-asserted-by":"crossref","first-page":"695","DOI":"10.1007\/s00467-013-2684-4","article-title":"Single-gene causes of congenital anomalies of the kidney and urinary tract (CAKUT) in humans","volume":"29","year":"2014","journal-title":"Pediatric Nephrology"},{"key":"ref451","doi-asserted-by":"crossref","first-page":"871","DOI":"10.1242\/dev.110759","article-title":"Hnf1b controls pancreas morphogenesis and the generation of Ngn3+ endocrine progenitors","volume":"142","year":"2015","journal-title":"Development"},{"key":"ref461","doi-asserted-by":"crossref","first-page":"1057","DOI":"10.1086\/522591","article-title":"Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy","volume":"81","year":"2007","journal-title":"American Journal of Human Genetics"},{"key":"ref221","doi-asserted-by":"crossref","first-page":"1243","DOI":"10.1046\/j.1523-1755.2002.00272.x","article-title":"Solitary functioning kidney and diverse genital tract malformations associated with hepatocyte nuclear factor-1beta mutations","volume":"61","year":"2002","journal-title":"Kidney International"},{"key":"ref501","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1097\/GCO.0b013e32814b0649","article-title":"Reproductive performance of women with mullerian anomalies","volume":"19","year":"2007","journal-title":"Current Opinion in Obstetrics and Gynecology"},{"key":"ref411","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1684\/mrh.2015.0388","article-title":"The art of magnesium transport","volume":"28","year":"2015","journal-title":"Magnesium Research"},{"key":"ref41","doi-asserted-by":"crossref","first-page":"1829","DOI":"10.1242\/dev.129.8.1829","article-title":"Bile system morphogenesis defects and liver dysfunction upon targeted deletion of HNF1beta","volume":"129","year":"2002","journal-title":"Development"},{"key":"ref531","doi-asserted-by":"crossref","first-page":"136","DOI":"10.5808\/GI.2014.12.4.136","article-title":"Genome architecture and its roles in human copy number variation","volume":"12","year":"2014","journal-title":"Genomics and Informatics"},{"key":"ref401","first-page":"318","article-title":"RontgenM Human gene encodes for the Na Mg exchanger of - https doi org","volume":"41","journal-title":"American Journal Physiology Cell Physiology"},{"key":"ref371","doi-asserted-by":"crossref","first-page":"707","DOI":"10.1007\/s00467-015-3142-2","article-title":"HNF1B-associated clinical phenotypes: the kidney and beyond","volume":"31","year":"2016","journal-title":"Pediatric Nephrology"},{"key":"ref251","year":"2006","journal-title":"GeneReviews((R))"},{"key":"ref181","doi-asserted-by":"crossref","first-page":"871","DOI":"10.1242\/dev.110759","article-title":"Hnf1b controls pancreas morphogenesis and the generation of Ngn3+ endocrine progenitors","volume":"142","year":"2015","journal-title":"Development"},{"key":"ref101","doi-asserted-by":"crossref","first-page":"707","DOI":"10.1007\/s00467-015-3142-2","article-title":"HNF1B-associated clinical phenotypes: the kidney and beyond","volume":"31","year":"2016","journal-title":"Pediatric Nephrology"},{"key":"ref431","first-page":"215","article-title":"Study of magnesium bioavailability from ten organic and inorganic Mg salts in Mg-depleted rats using a stable isotope approach","volume":"18","year":"2005","journal-title":"Magnesium Research"},{"key":"ref21","doi-asserted-by":"crossref","first-page":"897","DOI":"10.1007\/s00467-011-1826-9","article-title":"HNF1B and PAX2 mutations are a common cause of renal hypodysplasia in the CKiD cohort","volume":"26","year":"2011","journal-title":"Pediatric Nephrology"},{"key":"ref11","doi-asserted-by":"crossref","first-page":"2864","DOI":"10.1681\/ASN.2006030277","article-title":"Prevalence of mutations in renal developmental genes in children with renal hypodysplasia: results of the ESCAPE study","volume":"17","year":"2006","journal-title":"Journal of the American Society of Nephrology"},{"key":"ref211","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1186\/1471-213X-11-5","article-title":"The nephrogenic potential of the transcription factors osr1, osr2, hnf1b, lhx1 and pax8 assessed in Xenopus animal caps","volume":"11","year":"2011","journal-title":"BMC Developmental Biology"},{"key":"ref231","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1097\/GCO.0b013e32814b0649","article-title":"Reproductive performance of women with mullerian anomalies","volume":"19","year":"2007","journal-title":"Current Opinion in Obstetrics and Gynecology"},{"key":"ref91","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1159\/000439286","article-title":"Hypomagnesemia as first clinical manifestation of ADTKD-HNF1B: a case series and literature review","volume":"42","year":"2015","journal-title":"American Journal of Nephrology"}],"container-title":["Endocrinology, Diabetes & Metabolism Case Reports"],"original-title":[],"link":[{"URL":"https:\/\/edm.bioscientifica.com\/view\/journals\/edm\/2018\/1\/EDM17-0120.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/edm.bioscientifica.com\/downloadpdf\/journals\/edm\/2018\/1\/EDM17-0120.xml","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T13:46:42Z","timestamp":1784555202000},"score":1,"resource":{"primary":{"URL":"http:\/\/journals.bioscientifica.com\/edm\/article\/3531"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,3,21]]},"references-count":50,"URL":"https:\/\/doi.org\/10.1530\/edm-17-0120","relation":{},"ISSN":["2052-0573"],"issn-type":[{"value":"2052-0573","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,3,21]]}}}