Identification and Characterization of Inherited Kidney Disease
Název práce v češtině: | Identifikace a charakterizace dědičně podmíněných onemocnění ledvin |
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Název v anglickém jazyce: | Identification and Characterization of Inherited Kidney Disease |
Klíčová slova: | dědičně podmíněných onemocnění ledvin, autosomálně dominantní tubulointersticiální onemocnění ledvin , ADTKD, UMOD, REN, MUC1, APOA4, vzácných onemocnění, uromodulin, renin, mucin-1, databázi pacientů, selhání ledvin, ESKD, ADTKD registr |
Klíčová slova anglicky: | Inherited Kidney Disease, Autosomal Tubulointerstitial Kidney Disease, ADTKD, UMOD, REN, MUC1, APOA4, rare disease, uromodulin, renin, mucin-1, patient database, end stage kidney disease, ESKD, ADTKD registry |
Akademický rok vypsání: | 2018/2019 |
Typ práce: | disertační práce |
Jazyk práce: | angličtina |
Ústav: | Klinika pediatrie a dědičných poruch metabolismu 1. LF UK a VFN (11-00650) |
Vedoucí / školitel: | prof. Ing. Stanislav Kmoch, CSc. |
Řešitel: | skrytý![]() |
Datum přihlášení: | 26.11.2018 |
Datum zadání: | 26.11.2018 |
Datum potvrzení stud. oddělením: | 26.11.2018 |
Datum a čas obhajoby: | 28.06.2024 10:00 |
Místo konání obhajoby: | Albertov 5, Praha 2 |
Datum odevzdání elektronické podoby: | 02.04.2024 |
Datum proběhlé obhajoby: | 28.06.2024 |
Předmět: | Obhajoba dizertační práce (B90002) |
Oponenti: | MUDr. Silvie Rajnochová Bloudíčková, Ph.D. |
Ewout J. Hoorn | |
Konzultanti: | Mgr. Martina Živná, Ph.D. |
Seznam odborné literatury |
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Předběžná náplň práce |
Úvod:Selhání ledvin (ESKD) je spojeno s vysokou morbiditou a mortalitou. Příčina ESKD je často neznámá. Asi 10 % případů ESKD je podmíněna geneticky. Autosomálně dominantní tubulointersticiální onemocnění ledvin (ADTKD) je charakterizováno chronickým onemocněním ledvin (CKD) vedoucím k ESKD ve věku okolo 45 let bez proteinurie a hematurie. Nejčastější genetickou příčinou ADTKD jsou patogenní varianty UMOD, MUC1 a REN, asi 15% případů má neznámou genetickou příčinu. Cíle: (1) Zvýšení povědomí o ADTKD mezi klinickými nefrology. (2) Správná genetická klasifikace ADTKD a identifikace nových genů a jejich variant podmiňujících ADTKD. (3) Rozšíření znalostí patogenetických mechanismů ADTKD. (4) Prohloubení znalostí klinické charakterizace ADTKD a identifikace faktorů ovlivňujících progresi ADTKD. (5) Identifikace nových patogenních variant MUC1 v rodinách s ADTKD a vyloučenou prevalentní variantou duplikace cytosinu ve VNTR MUC1. Metody: V rámci práce studentka vyvinula interaktivní databázi umožňující přímý kontakt s pacienty, lékaři a výzkumníky. Studentka zavedla laboratorní protokoly pro izolaci DNA a odběr a odesílání vzorků na příslušné genetické testování. Významně se podílela na interpretaci identifikovaných genetických variant. Dále vytvořila pacientské dotazníky pro zlepšení znalosti klinických charakteristik ADTKD. Výsledky: Od roku 2018 jsme rozšířili náš ADTKD registr o 238 nových rodin na celkový počet 1100. Patogenní varianty UMOD, MUC1 a REN jsme identifikovali u 126, 297 resp. 115 případů. Nalezli jsme patogenní varianty APOA4 jako nové genetické příčiny ADTKD. Identifikovali jsme faktory spojené s progresí ADTKD, což jsou typ patogenní varianty, dna, věk ESKD u rodičů a pohlaví. Definovali jsme odlišné klinické podtypy ADTKD-REN.Závěr: Zvýšili jsem schopnost nefrologů rozpoznat ADTKD a tím zlepšili správnost určení diagnózy ve skupině CKD. Dále jsme rozšířili spektrum genetických příčin ADTKD a identifikovali faktory ovlivňující progresi ADTKD. |
Předběžná náplň práce v anglickém jazyce |
Background: End-stage kidney disease (ESKD) is associated with high morbidity and mortality, with the cause of ESKD unknown in many cases. At least 10% of patients have a genetic cause of ESKD, with many undiagnosed. Autosomal dominant tubulointerstitial kidney disease (ADTKD) is characterized by a bland urinary sediment and chronic kidney disease (CKD) leading to ESKD at a mean age of 45y. The most common genetic causes of ADTKD are pathogenic variants in UMOD, MUC1, and REN, with an unknown cause in 15%. Specific Aims: (1) To better understand ADTKD prevalence by expanding outreach. (2) To classify ADTKD families genetically and identify new genetic causes. (3) To expand existing knowledge of ADTKD pathophysiology. (4) To better characterize ADTKD clinically and identify factors associated with progression. (5) To identify novel MUC1 pathogenic variants in undiagnosed ADTKD families. Methods: I developed an interactive computer database that allowed direct contact with participants, clinicians, and researchers. I oversaw and instituted laboratory protocols to collect samples, isolate DNA, and send for appropriate genetic testing. I assisted in interpretation of genetic variants. I created patient surveys to assess ADTKD clinical characteristics. Results: Since 2018, we recruited 238 new families, increasing our total number of families to 1100. We identified UMOD, MUC1, and REN pathogenic variants in 126, 297, and 115 individuals. We identified APOA4 as a new genetic cause of ADTKD. We identified an in vitro score, gout, parental age of ESKD, and gender as factors associated with ADTKD progression. We identified distinct subtypes of ADTKD-REN. Conclusion: We significantly increased our knowledge of the prevalence, characteristics, and genetic causes of ADTKD. Future work will focus on identification of new therapies, based on our clinical, genetic, and pathophysiologic findings. |