Hepatocyte nuclear factor 1β-associated kidney disease: More than renal cysts and diabetes

Journal of the American Society of Nephrology

Volumn 27, Issue 2, 2016, Pages 345-353

  Verhave, Jacobien C ^a   Bech, Anneke P ^a   Wetzels, Jack F M ^a   Nijenhuis, Tom ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

HEPATOCYTE NUCLEAR FACTOR 1BETA;

AUTISM; CHRONIC KIDNEY DISEASE; CLINICAL FEATURE; DIABETES MELLITUS; DIABETIC NEPHROPATHY; DISEASE ASSOCIATION; ELECTROLYTE DISTURBANCE; END STAGE RENAL DISEASE; FEMALE GENITAL TRACT TUMOR; GENE MUTATION; GENETIC SCREENING; GENITAL MALFORMATION; GITELMAN SYNDROME; GOUT; HEPATOCYTE NUCLEAR FACTOR 1BETA ASSOCIATED KIDNEY DISEASE; HORSESHOE KIDNEY; HUMAN; HYPERPARATHYROIDISM; HYPERTRANSAMINASEMIA; HYPERURICEMIA; HYPOCALCIURIA; HYPOMAGNESEMIA; KIDNEY AGENESIS; KIDNEY CARCINOMA; KIDNEY CYST; KIDNEY DISEASE; KIDNEY DYSPLASIA; KIDNEY HYPOPLASIA; KIDNEY MALFORMATION; KIDNEY POLYCYSTIC DISEASE; KIDNEY TUBULE DISORDER; LIVER CELL CARCINOMA; MEDULLARY SPONGE KIDNEY; MENTAL DEFICIENCY; NEPHROLOGIST; NOCTURNAL ENURESIS; PANCREAS DISEASE; PANCREAS EXOCRINE INSUFFICIENCY; PHENOTYPE; PHYSICAL DISEASE BY BODY FUNCTION; PRIORITY JOURNAL; REVIEW; SOLITARY KIDNEY; URIC ACID NEPHROPATHY; URINARY TRACT INFECTION; URINARY TRACT MALFORMATION; UROGENITAL TRACT MALFORMATION; ADULT; CASE REPORT; DIABETIC NEPHROPATHIES; FEMALE; GENETICS; KIDNEY DISEASES, CYSTIC; MALE; MIDDLE AGED; MUTATION; PHYSIOLOGY; RENAL INSUFFICIENCY, CHRONIC; YOUNG ADULT;

ADULT; DIABETIC NEPHROPATHIES; FEMALE; HEPATOCYTE NUCLEAR FACTOR 1-BETA; HUMANS; KIDNEY DISEASES, CYSTIC; MALE; MIDDLE AGED; MUTATION; PHENOTYPE; RENAL INSUFFICIENCY, CHRONIC; YOUNG ADULT;

EID: 84970928405     PISSN: 10466673     EISSN: 15333450     Source Type: Journal    
DOI: 10.1681/ASN.2015050544     Document Type: Review

References (50)

1. Horikawa Y, Iwasaki N, Hara M, Furuta H, Hinokio Y,CockburnBN, Lindner T, YamagataK, Ogata M, Tomonaga O, Kuroki H, Kasahara T, Iwamoto Y, Bell GI: Mutation in hepatocyte nuclear factor-1 beta gene (TCF2) associated with MODY. Nat Genet 17: 384-385, 1997
2. Fajans SS, Bell GI: MODY: History, genetics, pathophysiology, and clinical decision making. Diabetes Care 34: 1878-1884, 2011
3. Bingham C, Bulman MP, Ellard S, Allen LI, Lipkin GW, Hoff WG, Woolf AS, Rizzoni G, Novelli G, Nicholls AJ, Hattersley AT: Mutations in the hepatocyte nuclear factor-1beta gene are associated with familial hypoplastic glomerulocystic kidney disease. Am J Hum Genet 68: 219-224, 2001
4. Bellanné-Chantelot C, Clauin S, Chauveau D, Collin P, Daumont M, Douillard C, Dubois-Laforgue D, Dusselier L, Gautier JF, Jadoul M, Laloi-Michelin M, Jacquesson L, Larger E, Louis J, Nicolino M, Subra JF, Wilhem JM, Young J, Velho G, Timsit J: Large genomic rearrangements in the hepatocyte nuclear factor-1beta (TCF2) gene are the most frequent cause of maturity-onset diabetes of the young type 5. Diabetes 54: 3126-3132, 2005
5. Fischer E, Pontoglio M: HNF1beta and defective nephrogenesis: A role for interacting partners? Kidney Int 74: 145-147, 2008
6. Ulinski T, Lescure S, Beaufils S, Guigonis V, Decramer S,MorinD, Clauin S,Deschênes G, Bouissou F, Bensman A, Bellanné-Chantelot C: Renal phenotypes related to hepatocyte nuclear factor-1beta (TCF2) mutations in a pediatric cohort. J AmSocNephrol 17: 497-503, 2006
7. Edghill EL, Bingham C, Ellard S, Hattersley AT: Mutations in hepatocyte nuclear factor-1beta and their related phenotypes. J Med Genet 43: 84-90, 2006
8. Heidet L, Decramer S, Pawtowski A,Morinière V, Bandin F, Knebelmann B, Lebre AS, Faguer S, Guigonis V, Antignac C, Salomon R: Spectrum of HNF1B mutations in a large cohort of patientswho harbor renal diseases. Clin JAmSoc Nephrol 5: 1079-1090, 2010
9. Nishigori H, Yamada S, Kohama T, Tomura H, ShoK,HorikawaY,BellGI,TakeuchiT,TakedaJ: Frameshift mutation, A263fsinsGG, in the hepatocyte nuclear factor-1beta gene associated with diabetes and renal dysfunction. Diabetes 47: 1354-1355, 1998
10. Massa F,Garbay S, Bouvier R, Sugitani Y,Noda T, Gubler MC, Heidet L, Pontoglio M, Fischer E: Hepatocyte nuclear factor 1b controls nephron tubular development. Development 140: 886-896, 2013
11. Hiesberger T, Shao X, Gourley E, Reimann A, PontoglioM, Igarashi P: Role of the hepatocyte nuclear factor-1beta (HNF-1beta) C-terminal domain in Pkhd1 (ARPKD) gene transcription and renal cystogenesis. J Biol Chem 280: 10578-10586, 2005
12. Faguer S, Decramer S, Chassaing N, Bellanné-Chantelot C, Calvas P, Beaufils S, Bessenay L, Lengelé JP, Dahan K, Ronco P, Devuyst O, Chauveau D: Diagnosis, management, and prognosis ofHNF1Bnephropathy in adulthood. Kidney Int 80: 768-776, 2011
13. Queisser-Luft A, Stolz G, Wiesel A, Schlaefer K, Spranger J: Malformations in newborn: Results based on 30,940 infants and fetuses from the Mainz congenital birth defect monitoring system (1990-1998). Arch Gynecol Obstet 266: 163-167, 2002
14. Soliman NA, Ali RI, Ghobrial EE, Habib EI, Ziada AM: Pattern of clinical presentation of congenital anomalies of the kidney and urinary tract among infants and children. Nephrology (Carlton) 20: 413-418, 2015
15. Bingham C, Hattersley AT: Renal cysts and diabetes syndrome resulting from mutations in hepatocyte nuclear factor-1beta. Nephrol Dial Transplant 19: 2703-2708, 2004
16. Chen YZ, Gao Q, Zhao XZ, Chen YZ, Bennett CL, Xiong XS, Mei CL, Shi YQ, Chen XM: Systematic review of TCF2 anomalies in renal cysts and diabetes syndrome/maturity onset diabetes of the young type 5. Chin Med J (Engl) 123: 3326-3333, 2010
17. Adalat S, Woolf AS, Johnstone KA, Wirsing A, Harries LW, Long DA, Hennekam RC, Ledermann SE, Rees L, van't Hoff W, Marks SD, Trompeter RS, Tullus K, Winyard PJ, Cansick J,Mushtaq I, DhillonHK, BinghamC, Edghill EL, Shroff R, Stanescu H, Ryffel GU, Ellard S, Bockenhauer D: HNF1B mutations associate with hypomagnesemia and renal magnesium wasting. J Am Soc Nephrol 20: 1123-1131, 2009
18. Meij IC, Koenderink JB, van Bokhoven H, Assink KF, Groenestege WT, de Pont JJ, Bindels RJ, Monnens LA, van den Heuvel LP, Knoers NV: Dominant isolated renal magnesium loss is caused by misrouting of the Na(+),K(+)-ATPase gamma-subunit. Nat Genet 26: 265-266, 2000
19. Ferrè S, Veenstra GJ, Bouwmeester R, Hoenderop JG, Bindels RJ: HNF-1B specifically regulates the transcription of the gasubunit of the Na+/K+-ATPase. Biochem Biophys Res Commun 404: 284-290, 2011
20. Bingham C, Ellard S, van't Hoff WG, Simmonds HA, Marinaki AM, Badman MK, Winocour PH, Stride A, Lockwood CR, Nicholls AJ, Owen KR, Spyer G, Pearson ER, Hattersley AT: Atypical familial juvenile hyperuricemic nephropathy associated with a hepatocyte nuclear factor-1beta gene mutation. Kidney Int 63: 1645-1651, 2003
21. Han J, Liu Y, Rao F,NievergeltCM,O'Connor DT, Wang X, Liu L, Bu D, Liang Y, Wang F, Zhang L, Zhang H, Chen Y, Wang H: Common genetic variants of the human uromodulin gene regulate transcription and predict plasma uric acid levels. Kidney Int 83: 733-740, 2013
22. Igarashi P, Shao X,McNally BT,Hiesberger T: Roles of HNF-1beta in kidney development and congenital cystic diseases. Kidney Int 68: 1944-1947, 2005
23. Haumaitre C, Barbacci E, Jenny M, Ott MO, Gradwohl G, Cereghini S: Lack of TCF2/vHNF1 in mice leads to pancreas agenesis. Proc Natl Acad Sci U S A 102: 1490-1495, 2005
24. Cha JY, Kim H, Kim KS, Hur MW, Ahn Y: Identification of transacting factors responsible for the tissue-specific expression of human glucose transporter type 2 isoform gene. Cooperative role of hepatocyte nuclear factors 1alpha and 3beta. J Biol Chem 275: 18358-18365, 2000
25. Bellanné-Chantelot C, Chauveau D, Gautier JF, Dubois-Laforgue D, Clauin S, Beaufils S, Wilhelm JM, Boitard C, Noël LH, Velho G, Timsit J: Clinical spectrum associated with hepatocyte nuclear factor-1beta mutations. Ann Intern Med 140: 510-517, 2004
26. Yorifuji T, Kurokawa K, Mamada M, Imai T, Kawai M, Nishi Y, Shishido S, Hasegawa Y, Nakahata T: Neonatal diabetes mellitus and neonatal polycystic, dysplastic kidneys: Phenotypically discordant recurrence of a mutation in the hepatocyte nuclear factor-1beta gene due to germline mosaicism. J Clin Endocrinol Metab 89: 2905-2908, 2004
27. Bingham C, Ellard S, Allen L, Bulman M, Shepherd M, Frayling T, Berry PJ, Clark PM, Lindner T, Bell GI, Ryffel GU, Nicholls AJ, Hattersley AT: Abnormal nephron development associatedwith a frameshift mutation in the transcription factor hepatocyte nuclear factor-1 beta. Kidney Int 57: 898-907, 2000
28. Beards F, Frayling T, Bulman M, Horikawa Y, Allen L, Appleton M, Bell GI, Ellard S, Hattersley AT: Mutations in hepatocyte nuclear factor 1beta are not a common cause of maturity-onset diabetes of the young in the U. K. Diabetes 47: 1152-1154, 1998
29. Thomas CP, Erlandson JC, Edghill EL, Hattersley AT, Stolpen AH: A genetic syndrome of chronic renal failure with multiple renal cysts and early onset diabetes. Kidney Int 74: 1094-1099, 2008
30. Bernardini L, Gimelli S, Gervasini C, Carella M, Baban A, Frontino G, Barbano G, Divizia MT, Fedele L, Novelli A, Béna F, Lalatta F, Miozzo M, Dallapiccola B: Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: Two case reports. Orphanet J Rare Dis 4: 25, 2009
31. BinghamC, Ellard S, Cole TR, Jones KE, Allen LI, Goodship JA, Goodship TH, Bakalinova-Pugh D, Russell GI, Woolf AS, Nicholls AJ, Hattersley AT: Solitary functioning kidney and diverse genital tract malformations associated with hepatocyte nuclear factor-1beta mutations. Kidney Int 61: 1243-1251, 2002
32. Renkema KY, Verhaar MC, Knoers NV: Diabetes-induced congenital anomalies of the kidney and urinary tract (CAKUT): Nurture and nature at work?AmJ Kidney Dis 65: 644-646, 2015
33. Kotalova R,Dusatkova P, Cinek O, Dusatkova L, Dedic T, Seeman T, Lebl J, Pruhova S: Hepatic phenotypes of HNF1B gene mutations: A case of neonatal cholestasis requiring portoenterostomy and literature review. World J Gastroenterol 21: 2550-2557, 2015
34. Lebrun G, Vasiliu V, Bellanné-Chantelot C, Bensman A, Ulinski T, Chrétien Y, Grünfeld JP: Cystic kidney disease, chromophobe renal cell carcinoma and TCF2 (HNF1 beta) mutations. Nat Clin Pract Nephrol 1: 115-119, 2005
35. Wang CC, Mao TL, Yang WC, Jeng YM: Underexpression of hepatocyte nuclear factor-1b in chromophobe renal cell carcinoma. Histopathology 62: 589-594, 2013
36. ShimJH, Lee HC, Han S, Kang HJ, Yu E, Lee SG: Hepatocyte nuclear factor 1b is a novel prognostic marker independent of the Milan criteria in transplantable hepatocellular carcinoma: A retrospective analysis based on tissue microarrays. Liver Transpl 19: 336-345, 2013
37. Yuan RH, Lai HS, Hsu HC, Lai PL, Jeng YM: Expression of bile duct transcription factor HNF1b predicts early tumor recurrence and is a stage-independent prognostic factor in hepatocellular carcinoma. J Gastrointest Surg 18: 1784-1794, 2014
38. Cuff J, Salari K, Clarke N, Esheba GE, Forster AD, Huang S, West RB, Higgins JP, Longacre TA, Pollack JR: Integrative bioinformatics links HNF1B with clear cell carcinoma and tumor-associated thrombosis. PLoS One 8: e74562, 2013
39. Tsuchiya A, Sakamoto M, Yasuda J, Chuma M, Ohta T, Ohki M, Yasugi T, Taketani Y, Hirohashi S: Expression profiling in ovarian clear cell carcinoma: Identification of hepatocyte nuclear factor-1 beta as a molecular marker and a possible molecular target for therapy of ovarian clear cell carcinoma. Am J Pathol 163: 2503-2512, 2003
40. Debiais-Delpech C, Godet J, Pedretti N, BernardFX, Irani J,Cathelineau X,CussenotO, Fromont G: Expression patterns of candidate susceptibility genes HNF1b and CtBP2 in prostate cancer: Association with tumor progression. Urol Oncol 32: 426-432, 2014
41. Loirat C, Bellanné-Chantelot C, Husson I, Deschênes G, Guigonis V, Chabane N: Autism in three patients with cystic or hyperechogenic kidneys and chromosome 17q12 deletion. Nephrol Dial Transplant 25: 3430-3433, 2010
42. Moreno-De-Luca D, Mulle JG, Kaminsky EB, Sanders SJ,Myers SM, AdamMP, Pakula AT, Eisenhauer NJ,UhasK,Weik L,Guy L, Care ME, MorelCF, Boni C, Salbert BA,Chandrareddy A, Demmer LA, Chow EW, Surti U, Aradhya S, Pickering DL, Golden DM, Sanger WG, Aston E, Brothman AR,GliemTJ, ThorlandEC, Ackley T, Iyer R, HuangS, Barber JC,Crolla JA,Warren ST, Martin CL, Ledbetter DH; SGENE Consortium; Simons Simplex Collection Genetics Consortium; GeneSTAR: Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia. Am J Hum Genet 87: 618-630, 2010
43. Ferrè S, Bongers EM, Sonneveld R, Cornelissen EA, van der Vlag J, van Boekel GA,Wetzels JF, Hoenderop JG, Bindels RJ, Nijenhuis T: Early development of hyperparathyroidism due to loss of PTH transcriptional repression in patients with HNF1b mutations? J Clin Endocrinol Metab 98: 4089-4096, 2013
44. Raaijmakers A,Corveleyn A,Devriendt K, van Tienoven TP, Allegaert K, Van Dyck M, van den Heuvel L, Kuypers D, Claes K,MekahliD, Levtchenko E: Criteria for HNF1B analysis in patients with congenital abnormalities of kidney and urinary tract. Nephrol Dial Transplant 30: 835-842, 2015
45. Nakayama M, Nozu K, Goto Y, Kamei K, Ito S, Sato H, Emi M, Nakanishi K, Tsuchiya S, Iijima K: HNF1B alterations associated with congenital anomalies of the kidney and urinary tract. Pediatr Nephrol 25: 1073-1079, 2010
46. VerbitskyM, Sanna-Cherchi S, FaselDA, Levy B, Kiryluk K, Wuttke M, Abraham AG, Kaskel F, Köttgen A, Warady BA, Furth SL, Wong CS, Gharavi AG: Genomic imbalances in pediatric patients with chronic kidney disease. J Clin Invest 125: 2171-2178, 2015
47. Musetti C, Quaglia M, Mellone S, Pagani A, Fusco I, Monzani A, Giordano M, Stratta P: Chronic renal failure of unknown origin is caused by HNF1B mutations in 9% of adult patients: A single centre cohort analysis. Nephrology (Carlton) 19: 202-209, 2014
48. Clissold RL, Hamilton AJ, Hattersley AT, Ellard S, Bingham C: HNF1B-associated renal and extra-renal disease-an expanDing clinical spectrum. Nat RevNephrol 11: 102-112, 2015
49. Faguer S, Chassaing N, Bandin F, Prouheze C, Garnier A, Casemayou A, Huart A, Schanstra JP, Calvas P, Decramer S, Chauveau D: The HNF1B score is a simple tool to select patients for HNF1B gene analysis. Kidney Int 86: 1007-1015, 2014
50. Eckardt KU, Alper SL, Antignac C, Bleyer AJ, Chauveau D, Dahan K, Deltas C, Hosking A, Kmoch S, Rampoldi L,WiesenerM,WolfMT, Devuyst O: Autosomal dominant tubulointerstitial kidney disease: Diagnosis, classification, and management-A KDIGO consensus report [published online ahead of print March 4, 2015]. Kidney Int doi:10. 1038/ki. 2015. 28