家族性若年性高尿酸血症性腎症 (HNFJ) [DS:H02011]
髄質性嚢胞腎 [DS:H02012]

Eckardt KU, Alper SL, Antignac C, Bleyer AJ, Chauveau D, Dahan K, Deltas C, Hosking A, Kmoch S, Rampoldi L, Wiesener M, Wolf MT, Devuyst O

Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management--A KDIGO consensus report.

Kidney Int 88:676-83 (2015)
DOI:10.1038/ki.2015.28

Hart TC, Gorry MC, Hart PS, Woodard AS, Shihabi Z, Sandhu J, Shirts B, Xu L, Zhu H, Barmada MM, Bleyer AJ

Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy.

J Med Genet 39:882-92 (2002)
DOI:10.1136/jmg.39.12.882

Kirby A, Gnirke A, Jaffe DB, Baresova V, Pochet N, Blumenstiel B, Ye C, Aird D, Stevens C, Robinson JT, Cabili MN, Gat-Viks I, Kelliher E, Daza R, DeFelice M, Hulkova H, Sovova J, Vylet'al P, Antignac C, Guttman M, Handsaker RE, Perrin D, Steelman S, Sigurdsson S, Scheinman SJ, Sougnez C, Cibulskis K, Parkin M, Green T, Rossin E, Zody MC, Xavier RJ, Pollak MR, Alper SL, Lindblad-Toh K, Gabriel S, Hart PS, Regev A, Nusbaum C, Kmoch S, Bleyer AJ, Lander ES, Daly MJ

Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing.

Nat Genet 45:299-303 (2013)
DOI:10.1038/ng.2543

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 63:1645-51 (2003)
DOI:10.1046/j.1523-1755.2003.00903.x

Zivna M, Hulkova H, Matignon M, Hodanova K, Vylet'al P, Kalbacova M, Baresova V, Sikora J, Blazkova H, Zivny J, Ivanek R, Stranecky V, Sovova J, Claes K, Lerut E, Fryns JP, Hart PS, Hart TC, Adams JN, Pawtowski A, Clemessy M, Gasc JM, Gubler MC, Antignac C, Elleder M, Kapp K, Grimbert P, Bleyer AJ, Kmoch S

Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failure.

Am J Hum Genet 85:204-13 (2009)
DOI:10.1016/j.ajhg.2009.07.010

Bolar NA, Golzio C, Zivna M, Hayot G, Van Hemelrijk C, Schepers D, Vandeweyer G, Hoischen A, Huyghe JR, Raes A, Matthys E, Sys E, Azou M, Gubler MC, Praet M, Van Camp G, McFadden K, Pediaditakis I, Pristoupilova A, Hodanova K, Vyletal P, Hartmannova H, Stranecky V, Hulkova H, Baresova V, Jedlickova I, Sovova J, Hnizda A, Kidd K, Bleyer AJ, Spong RS, Vande Walle J, Mortier G, Brunner H, Van Laer L, Kmoch S, Katsanis N, Loeys BL

Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia.

Am J Hum Genet 99:174-87 (2016)
DOI:10.1016/j.ajhg.2016.05.028

Kmochova T, Kidd KO, Orr A, Hnizda A, Hartmannova H, Hodanova K, Vyletal P, Nausova K, Brinsa V, Treslova H, Sovova J, Baresova V, Svojsova K, Vrbacka A, Stranecky V, Robins VC, Taylor A, Martin L, Rivas-Chavez A, Payne R, Bleyer HA, Williams A, Rennke HG, Weins A, Short PJ, Agrawal V, Storsley LJ, Waikar SS, McPhail ED, Dasari S, Leung N, Hewlett T, Yorke J, Gaston D, Geldenhuys L, Samuels M, Levine AP, West M, Hulkova H, Pompach P, Novak P, Weinberg RB, Bedard K, Zivna M, Sikora J, Bleyer AJ Sr, Kmoch S

Autosomal dominant ApoA4 mutations present as tubulointerstitial kidney disease with medullary amyloidosis.

Kidney Int 105:799-811 (2024)
DOI:10.1016/j.kint.2023.11.021