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Research Article Details

Article ID: A00159
PMID: 26340261
Source: Am J Nephrol
Title: Hypomagnesemia as First Clinical Manifestation of ADTKD-HNF1B: A Case Series and Literature Review.
Abstract: Autosomal dominant tubulointerstitial kidney disease subtype HNF1B (ADTKD-HNF1B) is caused by a mutation in hepatocyte nuclear factor 1 homeobox beta (HNF1B). Although 50-60% of ADTKD-HNF1B patients develop hypomagnesemia, HNF1B mutations are mainly identified in patients with structural kidney defects or diabetes. The current case series describes 3 patients in whom hypomagnesemia proved to be the first clinical manifestation of ADTKD-HNF1B. All patients presented with hypomagnesemia with a high fractional excretion of Mg2+ and hypocalciuria. Exome sequencing performed for analysis of known and candidate hypomagnesaemia genes and subsequent multiplex ligation-dependent probe amplification analysis revealed a large deletion at the chromosome 17q12. Follow-up analysis showed increased blood glucose concentrations in all 3 patients and high hemoglobin A1c levels in 2 out of 3 patients, indicating diabetes mellitus. Although all patients suffered from mild renal insufficiency, only 1 of the 3 patients was shown to have renal cysts on CT. The prevalence of HNF1B mutations and the relative contribution of hypomagnesemia to its symptoms are underestimated. Therefore, patients with primary renal magnesium wasting should be tested for HNF1B mutations to ensure early detection and optimal management of ADTKD-HNF1B.
DOI: 10.1159/000439286

Strategy ID Therapy Strategy Synonyms Therapy Targets Therapy Drugs

Target ID Target Name GENE Action Class UniProtKB ID Entry Name
T06 Sulfonylurea receptor 1 ABCC8 Target is a single protein chain Q09428 ABCC8_HUMAN Details
T47 Sialin SLC17A5 Target is a single protein chain Q9NRA2 SLC17A5_HUMAN Details

Diseases ID DO ID Disease Name Definition Class
I02 1184 nephrotic syndrome "A nephrosis characterized by marked increase in glomerular protein permeability resulting in marked elevation of urine protein levels, hypoalbuminemia, hyperlipidemia, and hypercoagulability." [url:https\://en.wikipedia.org/wiki/Nephrotic_syndrome, url:https\://www.niddk.nih.gov/health-information/kidney-disease/nephrotic-syndrome-adults] Details

Drug ID Drug Name Type DrugBank ID Targets Category Latest Progress
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D192 Losartan small molecule DB00678 Details
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D209 Lisinopril small molecule DB00722 Details
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D211 Rocuronium small molecule DB00728 Details
D212 Risperidone small molecule DB00734 Details
D213 Esomeprazole small molecule DB00736 Details
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D241 Donepezil small molecule DB00843 Details
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D243 Levamisole small molecule DB00848 Details
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D245 Pseudoephedrine small molecule DB00852 Details
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D247 Terbinafine small molecule DB00857 Details
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D249 Diflunisal small molecule DB00861 Details
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D251 Guaifenesin small molecule DB00874 Details
D252 Eprosartan small molecule DB00876 Details
D253 Sirolimus small molecule DB00877 Details
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D261 Cocaine small molecule DB00907 Details
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D263 Phenformin small molecule DB00914 Details
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D265 Metronidazole small molecule DB00916 Details
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D270 Mesoridazine small molecule DB00933 Details
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D273 Acetylsalicylic acid small molecule DB00945 Details
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D493 Ubidecarenone small molecule DB09270 Details
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D497 Ixazomib small molecule DB09570 Details
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D500 Medetomidine small molecule DB11428 Details
D501 Lesinurad small molecule DB11560 Details
D502 Carbon monoxide small molecule DB11588 Details
D503 Curcumin small molecule DB11672 Details
D504 Pyridoxamine small molecule DB11673 Details
D505 Equol small molecule DB11674 Details
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D507 Ebastine small molecule DB11742 Details
D508 Rifamycin small molecule DB11753 Details
D509 Imidapril small molecule DB11783 Details
D510 Angiotensin II small molecule DB11842 Details
D511 Verinurad small molecule DB11873 Details
D512 2,4-thiazolidinedione small molecule DB11898 Details
D513 Zuretinol acetate small molecule DB12112 Details
D514 Bradykinin small molecule DB12126 Details
D515 Sarpogrelate small molecule DB12163 Details
D516 Secoisolariciresinol small molecule DB12179 Details
D517 Bexagliflozin small molecule DB12236 Details
D518 Benzbromarone small molecule DB12319 Details
D519 Nitroaspirin small molecule DB12445 Details
D520 Piperine small molecule DB12582 Details
D521 Isoquercetin small molecule DB12665 Details
D522 Cicletanine small molecule DB12766 Details
D523 Gallopamil small molecule DB12923 Details
D524 Lactitol small molecule DB12942 Details
D525 Daidzein small molecule DB13182 Details
D526 Camostat small molecule DB13729 Details
D527 Fenofibric acid small molecule DB13873 Details
D528 Candesartan small molecule DB13919 Details
D529 Testosterone enanthate small molecule DB13944 Details
D530 Ferric cation small molecule DB13949 Details
D531 Palmidrol small molecule DB14043 Details
D532 Cianidanol small molecule DB14086 Details
D533 Tenofovir small molecule DB14126 Details
D534 Cinnamaldehyde small molecule DB14184 Details
D535 Cobaltous cation small molecule DB14205 Details
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D537 Zinc cation small molecule DB14532 Details
D538 Cupric cation small molecule DB14552 Details
D539 Bismuth cation small molecule DB14572 Details
D540 Calcium cation small molecule DB14577 Details
D541 Cortisone small molecule DB14681 Details
D542 Dabigatran small molecule DB14726 Details
D543 Remdesivir small molecule DB14761 Details
D544 Venglustat small molecule DB14966 Details
D545 Abrocitinib small molecule DB14973 Details
D546 Ursolic acid small molecule DB15588 Details