Research & Literature

A novel mutation of the HNF1B gene associated with hypoplastic glomerulocystic kidney disease and neonatal renal failure: a case report and mutation update.

Alvelos MI, Rodrigues M, Lobo L, et al.

Medicine 2015; (94(7)):e469 doi:10.1097/MD.0000000000000469.

Hnf1b controls pancreas morphogenesis and the generation of Ngn3+ endocrine progenitors.

De Vas MG, Kopp JL, Heliot C, et al.

Development (Cambridge, England) 2015; (142(5)):871-82 doi:10.1242/dev.110759.

Hypomagnesemia as First Clinical Manifestation of ADTKD-HNF1B: A Case Series and Literature Review.

van der Made CI, Hoorn EJ, de la Faille R, et al.

American journal of nephrology 2015; (42(1)):85-90 doi:10.1159/000439286.

Should we offer prenatal testing for 17q12 microdeletion syndrome to all cases with prenatally diagnosed echogenic kidneys? Prenatal findings in two families with 17q12 microdeletion syndrome and review of the literature.

Jones GE, Mousa HA, Rowley H, et al.

Prenatal diagnosis 2015; (35(13)):1336-41 doi:10.1002/pd.4701.

Chromosome 17q12 microdeletions but not intragenic HNF1B mutations link developmental kidney disease and psychiatric disorder.

Clissold RL, Shaw-Smith C, Turnpenny P, et al.

Kidney international 2016; (90(1)):203-11.

Fetal anomalies associated with HNF1B mutations: report of 20 autopsy cases.

Duval H, Michel-Calemard L, Gonzales M, et al.

Prenatal diagnosis 2016; (36(8)):744-51 doi:10.1002/pd.4858.

17q12 deletion and duplication syndrome in Denmark-A clinical cohort of 38 patients and review of the literature.

Rasmussen M, Vestergaard EM, Graakjaer J, et al.

American journal of medical genetics. Part A 2016; (170(11)):2934-2942 doi:10.1002/ajmg.a.37848.

The role of hepatocyte nuclear factor 1β in disease and development.

El-Khairi R, Vallier L

Diabetes, obesity & metabolism 2016; (18 Suppl 1()):23-32 doi:10.1111/dom.12715.

Biliary Anomalies in Patients With HNF1B Diabetes.

Kettunen JLT, Parviainen H, Miettinen PJ, et al.

The Journal of clinical endocrinology and metabolism 2017; (102(6)):2075-2082 doi:10.1210/jc.2017-00061.

Diabetes, Associated Clinical Spectrum, Long-term Prognosis, and Genotype/Phenotype Correlations in 201 Adult Patients With Hepatocyte Nuclear Factor 1B (HNF1B) Molecular Defects.

Dubois-Laforgue D, Cornu E, Saint-Martin C, et al.

Diabetes care 2017; (40(11)):1436-1443 doi:10.2337/dc16-2462.

Management of Gout and Hyperuricemia in CKD.

Vargas-Santos AB, Neogi T

American journal of kidney diseases : the official journal of the National Kidney Foundation 2017; (70(3)):422-439 doi:10.1053/j.ajkd.2017.01.055.

[Expert consensus for the diagnosis and treatment of patients with Gitelman syndrome].

Zhonghua nei ke za zhi 2017; (56(9)):712-716 doi:10.3760/cma.j.issn.0578-1426.2017.09.021.

HNF1B controls epithelial organization and cell polarity during ureteric bud branching and collecting duct morphogenesis.

Desgrange A, Heliot C, Skovorodkin I, et al.

Development (Cambridge, England) 2017; (144(24)):4704-4719 doi:10.1242/dev.154336.

Primary male factor infertility due to asthenospermia in maturity-onset diabetes of the young type 5 (MODY 5): uncommon presentation of an uncommon disease.

Chakraborty PP, Patra S, Biswas SN, Barman H

BMJ case reports 2018; (2018()) doi:10.1136/bcr-2017-223723.

De novo HNF1 homeobox B mutation as a cause for chronic, treatment-resistant hypomagnesaemia.

Stiles CE, Thuraisingham R, Bockenhauer D, et al.

Endocrinology, diabetes & metabolism case reports 2018; (2018()).

New insights into the role of HNF-1β in kidney (patho)physiology.

Ferrè S, Igarashi P

Pediatric nephrology (Berlin, Germany) 2019; (34(8)):1325-1335 doi:10.1007/s00467-018-3990-7.

17q12 Deletion Syndrome as a Rare Cause for Diabetes Mellitus Type MODY5.

Roehlen N, Hilger H, Stock F, et al.

The Journal of clinical endocrinology and metabolism 2018; (103(10)):3601-3610 doi:10.1210/jc.2018-00955.

Exocrine pancreatic dysfunction is common in hepatocyte nuclear factor 1β-associated renal disease and can be symptomatic.

Clissold RL, Fulford J, Hudson M, et al.

Clinical kidney journal 2018; (11(4)):453-458 doi:10.1093/ckj/sfx150.

The Role of HNF1B in Tumorigenesis of Solid Tumours: a Review of Current Knowledge.

Bártů M, Dundr P, Němejcová K, et al.

Folia biologica 2018; (64(3)):71-83 doi:10.14712/fb2018064030071.

HNF1B nephropathy has a slow-progressive phenotype in childhood-with the exception of very early onset cases: results of the German Multicenter HNF1B Childhood Registry.

Okorn C, Goertz A, Vester U, et al.

Pediatric nephrology (Berlin, Germany) 2019; (34(6)):1065-1075 doi:10.1007/s00467-018-4188-8.

Urinary proteome signature of Renal Cysts and Diabetes syndrome in children.

Ricci P, Magalhães P, Krochmal M, et al.

Scientific reports 2019; (9(1)):2225 doi:10.1038/s41598-019-38713-5.

Clinical characteristics of HNF1B-related disorders in a Japanese population.

Nagano C, Morisada N, Nozu K, et al.

Clinical and experimental nephrology 2019; (23(9)):1119-1129 doi:10.1007/s10157-019-01747-0.

HNF1B Mutations Are Associated With a Gitelman-like Tubulopathy That Develops During Childhood.

Adalat S, Hayes WN, Bryant WA, et al.

Kidney international reports 2019; (4(9)):1304-1311 doi:10.1016/j.ekir.2019.05.019.

2020 American College of Rheumatology Guideline for the Management of Gout.

FitzGerald JD, Dalbeth N, Mikuls T, et al.

Arthritis care & research 2020; (72(6)):744-760 doi:10.1002/acr.24180.

Simplifying Detection of Copy-Number Variations in Maturity-Onset Diabetes of the Young.

Berberich AJ, Wang J, Cao H, et al.

Canadian journal of diabetes 2021; (45(1)):71-77 doi:10.1016/j.jcjd.2020.06.001.

Variable Expressivity of HNF1B Nephropathy, From Renal Cysts and Diabetes to Medullary Sponge Kidney Through Tubulo-interstitial Kidney Disease.

Izzi C, Dordoni C, Econimo L, et al.

Kidney international reports 2020; (5(12)):2341-2350 doi:10.1016/j.ekir.2020.09.042.

New-onset diabetes after kidney transplantation revealing HNF1B-associated disease.

Lopes AM, Teixeira S

Endocrinology, diabetes & metabolism case reports 2021; (2021()).

Use of renin-angiotensin-aldosterone system blockade in controversial chronic kidney disease populations.

García-Prieto AM, Verdalles Ú, Goicoechea M

Medicina clinica 2021; (156(11)):561-567 doi:10.1016/j.medcli.2020.12.025.

Blood pressure in children with renal cysts and diabetes syndrome.

Seeman T, Weigel F, Blahova K, et al.

European journal of pediatrics 2021; (180(12)):3599-3603 doi:10.1007/s00431-021-04165-1.

Genotype-phenotype correlations and response to glucose lowering therapy in subjects with HNF1β associated diabetes.

Ng N, Mijares Zamuner M, Siddique N, et al.

Acta diabetologica 2022; (59(1)):83-93 doi:10.1007/s00592-021-01794-8.

The Dietary Approach to the Treatment of the Rare Genetic Tubulopathies Gitelman's and Bartter's Syndromes.

Francini F, Gobbi L, Ravarotto V, et al.

Nutrients 2021; (13(9)) doi:10.3390/nu13092960.

Hepatocyte Nuclear Factor 1 Beta Mutation-associated Newborn Onset of Glomerulocystic Kidney Disease: A Case Presentation.

Goknar N, Ekici Avci M, Uckardes D, et al.

Medeniyet medical journal 2021; (36(4)):352-355 doi:10.4274/MMJ.galenos.2021.02686.

Improving renal phenotype and evolving extra-renal features of 17q12 deletion encompassing the HNF1B gene.

Cleper R, Reches A, Shapira D, et al.

Translational pediatrics 2021; (10(12)):3130-3139 doi:10.21037/tp-21-386.

Spectrum of Genetic T-Cell Disorders from 22q11.2DS to CHARGE.

Urschel D, Hernandez-Trujillo VP

Clinical reviews in allergy & immunology 2022; (63(1)):99-105 doi:10.1007/s12016-022-08927-z.

The Clinical Characteristics and Gene Mutations of Maturity-Onset Diabetes of the Young Type 5 in Sixty-One Patients.

Ge S, Yang M, Cui Y, et al.

Frontiers in endocrinology 2022; (13()):911526 doi:10.3389/fendo.2022.911526.

Hypertriglyceridemia as a main feature associated with 17q12 deletion syndrome-related hepatocyte nuclear factor 1β-maturity-onset diabetes of the young.

Thewjitcharoen Y, Nakasatien S, Tsoi TF, et al.

Endocrinology, diabetes & metabolism case reports 2022; (2022()).

A Case of Diabetes Mellitus Type MODY5 as a Feature of 17q12 Deletion Syndrome

Yaşar Köstek H, Özgüç Çömlek F, Gürkan H, et al.

Journal of clinical research in pediatric endocrinology 2024; (16(2)):205-210 doi:10.4274/jcrpe.galenos.2022.2022-3-2.

Potter Deformation Sequence Caused by 17q12 Deletion: A Lethal Constellation.

Molina LM, Salgado CM, Reyes-Múgica M

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society 2023; (26(2)):144-148 doi:10.1177/10935266221139341.

The Landscape of HNF1B Deficiency: A Syndrome Not Yet Fully Explored.

Gambella A, Kalantari S, Cadamuro M, et al.

Cells 2023; (12(2)) doi:10.3390/cells12020307.

Maturity-onset diabetes of the young secondary to HNF1B variants (HNF1B-MODY): a series of 10 patients from a single diabetes center.

Amaral S, Palha A, Bogalho P, Silva-Nunes J

Diabetology & metabolic syndrome 2023; (15(1)):21 doi:10.1186/s13098-022-00964-0.

Close Call From a Sweet Twist: A Case of Licorice-Induced Torsades De Pointes.

Molina-Lopez V, Engel-Rodriguez A, Escabi-Mendoza J

Cureus 2023; (15(1)):e34126 doi:10.7759/cureus.34126.

Acquired Disorders of Hypomagnesemia.

Rosner MH, Ha N, Palmer BF, Perazella MA

Mayo Clinic proceedings 2023; (98(4)):581-596 doi:10.1016/j.mayocp.2022.12.002.

Review of neurodevelopmental disorders in patients with HNF1B gene variations.

Nittel CM, Dobelke F, König J, et al.

Frontiers in pediatrics 2023; (11()):1149875 doi:10.3389/fped.2023.1149875.

Management of adults with Alagille syndrome.

Ayoub MD, Bakhsh AA, Vandriel SM, et al.

Hepatology international 2023; (17(5)):1098-1112 doi:10.1007/s12072-023-10578-x.

Hepatocyte nuclear factor 1B deletion, but not intragenic mutation, might be more susceptible to hypomagnesemia.

Wang Y, Xiao X, Lin Q, et al.

Journal of diabetes investigation 2024; (15(1)):121-130 doi:10.1111/jdi.14084.

Loss of Muscle Mass in Delayed Diagnosis of Renal Cysts and Diabetes Syndrome: A Case Report.

Li X, Cao Y, Gu N, Yuan Z

Diabetes, metabolic syndrome and obesity : targets and therapy 2023; (16()):3847-3850 doi:10.2147/DMSO.S430096.

A Case of Chromosome 17q12 Deletion Syndrome with Type 2 Mayer-Rokitansky-Küster-Hauser Syndrome and Maturity-Onset Diabetes of the Young Type 5.

Lee R, Choi JE, Mun E, et al.

Children (Basel, Switzerland) 2024; (11(4)) doi:10.3390/children11040404.

Prenatal diagnosis and family analysis of 17q12 microdeletion syndrome with fetal renal abnormalities.

Zhang F, Gu Q, Song J, et al.

Frontiers in genetics 2024; (15()):1401315 doi:10.3389/fgene.2024.1401315.

Renal and Extrarenal Phenotypes in Patients With HNF1B Variants and Chromosome 17q12 Microdeletions.

Buffin-Meyer B, Richard J, Guigonis V, et al.

Kidney international reports 2024; (9(8)):2514-2526 doi:10.1016/j.ekir.2024.05.007.

Fetal bilateral hyperechogenic kidneys: Prenatal progression and long-term postnatal outcome.

Vivek K, Subtil S, Sanna E, et al.

Early human development 2025; (202()):106222 doi:10.1016/j.earlhumdev.2025.106222.

Hypokalemia-Induced Rhabdomyolysis with Coexisting Hypomagnesemia: A Case Report.

Migita K, Yamasaki K, Takenaka Y, et al.

The Tohoku journal of experimental medicine 2025; (267(3)):317-322 doi:10.1620/tjem.2025.J051.

A Diagnosis of Maturity-onset Diabetes of the Young Type 5 Provides Clarity and Broadens Reproductive Options.

Conn JJ, Walsh M, Kane SC, et al.

JCEM case reports 2025; (3(9)):luaf165 doi:10.1210/jcemcr/luaf165.

2024 Update of Chinese Guidelines for Management of Hyperuricemia and Gout Part II: Recommendations for Patients With Common Comorbidities.

Li C, Sun M, Liu Z, et al.

International journal of rheumatic diseases 2025; (28(8)):e70402 doi:10.1111/1756-185x.70402.

The Clinical Spectrum of Acquired Hypomagnesemia: From Etiology to Therapeutic Approaches.

Floris M, Angioi A, Lepori N, et al.

Biomedicines 2025; (13(8)) doi:10.3390/biomedicines13081862.

Pediatric patient with maturity-onset diabetes of the young type 5 and 17q12 deletion syndrome: A case report.

Rico-Rodríguez M, Fuentes-Cantero S, García-Rivera MC, Varo-Sánchez GM

Medicine international 2025; (5(5)):61 doi:10.3892/mi.2025.260.

MODY5 and 17q12 Microdeletion Syndrome: Phenotype Variability, Prenatal and Postnatal Counseling.

Fontana P, Costabile C, Falco M, et al.

Genes 2025; (16(9)) doi:10.3390/genes16091002.

Autosomal dominant tubulointerstitial kidney disease in Chinese patients.

Li MS, Jiang L, You RL, et al.

Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2026; (41(6)):1045-1057 doi:10.1093/ndt/gfaf229.

From mutation to symptoms: a multi-center study on HNF1B-related nephropathy in Chinese children.

Zhang H, Wang C, Jiang X, et al.

BMC nephrology 2025; (26(1)):701 doi:10.1186/s12882-025-04616-z.

17q12 Recurrent Deletion Syndrome in Childhood.

Ceravolo G, Mollica S, Cavallaro M, et al.

Genes 2025; (16(12)) doi:10.3390/genes16121499.

Molecular impact of a novel HNF1B missense variant in childhood-onset MODY5: a case report and functional study.

Umeda C, Imagawa E, Hokazono S, et al.

Frontiers in endocrinology 2026; (17()):1814139 doi:10.3389/fendo.2026.1814139.

Treatment Options for Patients with Maturity-Onset Diabetes of the Young (MODY): A Systematic Review of Literature: 2026 Update.

Zagaroli L, Di Berardino A, Petragnano F, et al.

Diabetes therapy : research, treatment and education of diabetes and related disorders 2026; (17(7)):959-983 doi:10.1007/s13300-026-01884-2.

HNF1B-MODY (MODY-5): a rare form of diabetes with multisystemic features-two case reports.

Carvalho T, Lavrador M, Saraiva J, Gomes L

Frontiers in endocrinology 2026; (17()):1841040 doi:10.3389/fendo.2026.1841040.

Hypomagnesemia from malabsorption and renal magnesium wasting treated with high-dose magnesium glycinate: A case report.

Tran BAC, Miller T

Journal of the American Pharmacists Association : JAPhA 2026; 103496 doi:10.1016/j.japh.2026.103496.

Fifteen minute consultation: managing children with HNF1B pathogenic variants.

O'Gorman JR, Tse Y, Reid J, et al.

Archives of disease in childhood. Education and practice edition 2026; doi:10.1136/archdischild-2026-330293.

Clinical Spectrum and Early Renal Functional Variability in a Nationwide Greek Pediatric HNF1B Multicenter Cohort.

Dotis J, Zampetoglou A, Askiti V, et al.

Journal of clinical medicine 2026; (15(17)) doi:10.3390/jcm15176590.