Doc. MUDr. Jana Reiterová, Ph.D.
Klinika nefrologie 1. LF UK a Všeobecné fakultní nemocnice v Praze
Doc. MUDr. Jana Reiterová, Ph.D. se narodila roku 1974 v Praze. Studium na 1. LF UK absolvovala roku 1998. Poté nastoupila na 1. Interní kliniku a poté na Kliniku nefrologie Všeobecné fakultní nemocnice a 1.LF UK (přednosta: prof.MUDr. Vladimír Tesař, DrSc.), kde je zaměstnána na hlavní úvazek dosud. V roce 2001 složila atestaci z Interního lékařství a v roce 2007 z Nefrologie.
V letech 1998-2003 absolvovala postgraduální studium na téma DNA diagnostika u polycystické choroby ledvin autozomálně dominantního typu na Klinice nefrologie a na Ústavu biologie a lékařské genetiky 1. LF UK pod vedením prof. MUDr. Miroslava Merty, CSc. a Ing. Jitky Štekrové. V rámci postgraduálního studia absolvovala studijní pobyt v laboratoři molekulární genetiky v Leidenu. Dále se věnuje i dalším dědičným chorobám ledvin. V roce 2010 obhájila habilitační práci v oboru lékařské genetiky na téma Genetické faktory ovlivňující průběh polycystické choroby ledvin autozomálně dominantního typu.
Doc. MUDr. Jana Reiterová, Ph.D. je autorem těchto článků v časopise Postgraduální nefrologie:
Kramers BJ, Koorevaar IW, van Gastel MDA, et al. Effect of hydrochlorothiazide and metformin on aquaresis and nephroprotection by a vasopressin V2 receptor antagonist in ADPKD. Clin J Am Soc Nephrol 2022;17:507–517.
Senum SR, Ying M, Benson KA, Joli G, Genomics England Research Consortium, the HALT PKD, CRISP, DIPAK, ADPKD Modifier, and TAME PKD studies, Harris PC. Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney‑spectrum phenotype. Am J Hum Genet 2022;109:136–156.
Dominigo‑Gallego A, Pybus M, Bullich G, et al. Clinical utility of genetic testing in early‑onset kidney disease: seven genes are the main players. Nephrol Dial Transplant 2022;37:687–696.
Perrone RD, Abebe KZ, Watnick TJ, et al. Primary results of the randomized trial of metformin administration in polycystic kidney disease (TAME PKD).
Kidney Int 2021;100:684–696.
Goka S, Copelovitch L, Levy, Erez D. Long‑term outcome among females with Alport syndrome from a single pediatric center. Pediatr Nephrol 2021;36:945–951.
Heida JE, Gansevoort RT, Torres VE, et al. The Effect of Tolvaptan on BP in Polycystic Kidney Disease: A Post Hoc Analysis of the TEMPO 3:4 Trial. J Am Soc Nephrol 2021; Apr 22:ASN.2020101512. doi: 10.1681/ASN.2020101512.
Sérová koncentrace bikarbonátu ovlivňuje prognózu autozomálně dominantní polycystické choroby ledvin
Blijdorp CJ, Severs D, Mustard‑Bhaggoe UM, et al. Serum bicarbonate is associated with kidney outcomes in autosomal dominant polycystic kidney disease. Nephrol Dial Transplant 2020;130:1–8.
Curry JN, Saurette M, Askari M, et al. Claudin‑2 deficiency associates with hypercalciuria in mice and human kidney stone disease. J Clin Invest 2020;130:1948–1960.
Chimenti C, Nencini P, Pieruzzi F, et al. The GALA project: practical recommendations for the use of migalastat in clinical practice on the basis of a structured survey among Italian experts. Orphanet J Rare Dis 2020;15:86. Published 2020 Apr 7. doi: 10.1186/s13023‑020‑1318‑8
Mansilla MA, Sompallae RR, Nishimura CJ, et al. Targeted broad‑based genetic testing by next‑generation sequencing informs diagnosis and facilitates management in patients with kidney diseases. Nephrol Dial Transplant 2019; Nov 18. pii: gfz173. doi: 10.1093/ndt/gfz173. [Epub ahead of print].
Sanchis IM, Shukoor S, Irazabal MV, et al. Presymptomatic screening for intracranial aneurysms in patients with autosomal dominant polycystic kidney disease.
Clin J Am Soc Nephrol 2019;14:1151–1160.
Perico N, Ruggenenti P, Perna A, et al.; ALADIN 2 Study Group. Octreotide‑LAR in later‑stage autosomal dominant polycystic kidney disease (ALADIN 2): A randomized, double‑blind, placebo‑controlled, multicenter trial.
PLOS Med 2019;16(4):e1002777.
Madsen CV, Granqvist H, Petersen HJ, et al. Age‑related renal function decline in Fabry disease patients on enzyme replacement therapy: a longitudinal cohort study.
Nephrol Dial Transplant 2018;10:1–9.
BMC Nephrol 2018;19:282.
Bullich G, Domino‑Gallego A, Vargas I, et al.
Arends M, Biegstraaten M, Wanner C, et al.
Torres VE, Chapman AB, Devuyst O, et al.
Bissler JJ, Kingswood JC, Radzikowska E, et al.
Torres VE, Chapman AB, Devuyst O, et al.
Multicentric open‑label, extension trial to evaluate the long‑term efficacy and safety of early versus delayed treatment with tolvaptan in autosomal dominant polycystic kidney disease: the TEMPO 4:4 Trial. Nephrol Dial Transplant 2017 Mar 31. doi: 10.1093/ndt/gfx043. [Epub ahead of print]
Cornec‑Le Gall E, Audrézet MP, Harris PC, et al.
PKD2‑related autosomal dominant polycystic kidney disease: prevalence, clinical presentation, mutation spectrum, and prognosis. Am J Kidney Dis 2017.
Lantinga MA, D’Agnolo HM, Casteleijn NF, et al.
Hepatic Cyst Infection During Use of the Somatostatin Analog Lanreotide in Autosomal Dominant Polycystic Kidney Disease: An Interim Analysis of the Randomized Open‑Label Multicenter DIPAK‑1 Study. Drug Saf 2017;40:153–167.
Hughes DA, Nicholls K, Shankar SP, et al.
Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18‑month results from the randomised phase III ATTRACT. J Med Genet doi:10.1136/jmedgenet-2016-104178.
Troyanov S, Delmas‑Frenette C, Bollée G, et al. Clinical, Genetic, and Urinary Factors Associated with Uromodulin Excretion. Clin J Am Soc Nephrol 2016;11:62–69.
Germain DP, Charrow J, Desnick RJ, et al. Ten‑year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease. J Med Genet 2015;52:353–358.
Gevers T, Ho J, Monshouwer R, Dekker H, Wetzels J, Drenth J. Effect of lanreotide on polycystic liver and kidneys in autosomal dominant polycystic kidney disease: an observational trial. Liver Int 2015;35:1607–1614.
Bhutani H, Smith V, Rahbari‑Oskoui F, et al., for the CRISP investigators. A comparison of ultrasound and magnetic resonance imaging shows that kidney length predicts chronic kidney disease in autosomal dominant polycystic kidney disease. Kidney Int 2015; doi 10.1038Iki.2015.71.
Schrier RW, Abebe KZ, Perrone RD, et al., HALT‑PKD Trial Investigators. Blood pressure in early autosomal dominant polycystic kidney disease. N Engl J Med 2014;371:2255–2266.
Sadowski EC, Lovric S, Ashraf S, Pabst WL, Gee HY, Kohl S, Engelmann S, Vega‑Warner, Fang H, Halbritter J, Sommers JM, Tan W, et al., the SRNS Study Group and Hildebrandt F. A single‑gene cause in 29.5% of cases of steroid‑resistant nephrotic syndrome. J Am Soc Nephrol 2014 Oct 27. pii: ASN.2014050489. [Epub ahead of print]
Meijers B, Maas RJ, Sprangers B, et al. The soluble urokinase receptor is not a clinical marker for focal segmental glomerulosclerosis. Kidney Int 2014;85:636–640.
Caroli A, Perico N, Perna A, Antiga L, Brambilla P, Pisani A, Visciano B, Imbriaco M, Messa P, Cerutti R, Dugo M, Cancian L, Buongiorno E, De Pascalis A, Gaspari F, Carrara F, Rubis N, Prandini S, Remuzzi A, Remuzzi G, Ruggenenti P. Effect of long-acting somatostatin analogue on kidney and cyst growth in autosomal dominant polycystic kidney disease (ALADIN): a randomised, placebo‑controlled, multicentre trial. Lancet 2013;382:1485–1495.
Bisler JJ, Kidgswood JC, Razikowska E, Zonnenberg BA, Frost M, Belousova E, Sauter M, Nonomura N, Brakemeier S, de Vries PJ, Whittemore VH, Chen D, Sahmoud T, Shah G, Lincy J, Lebwohl D, Budde K. Everolimus for angiomyolipoma associated with tuberous sclerosis complex or sporadic lymphangioleiomyomatosis (EXIST‑2): a multicentre, randomised, double‑blind, placebo‑controlled trial. Lancet 2013;381:817–824.
Torres VE, Chapman AB, Devuyst O, Gansevoort RT, Grantham JJ, Higashihara E, Perrone RD, Krasa HB, Ouyang J, Czerwiec FS. Tolvaptan in patients with autosomal dominant polycystic kidney disease. N Engl J Med 2012; e‑pub ahead of print.
Warnock DG, Ortiz A, Mauer M, et al. Renal outcomes of agalsidase beta treatment for Fabry disease: role of proteinuria and timing of treatment initiation. Nephrol Dial Transplant 2012;27:1042–1049.
Tazón-Vega B, Ars E, Burset M, Santin S, Ruíz P, Fernandez-Llama P, Ballarin J, Torra R. Genetic testing for X-linked Alport syndrome by direct sequencing of COL4A5 cDNA from hair root RNA samples. Am J Kidney Dis 2007; 2:518–526.