@article{MTMT:34502777,
	title = {The Apical Endocytic-Lysosomal Apparatus in CLCN5 Mutations with Phenotypic-Genotypic Correlations in Three Cases},
	url = {https://m2.mtmt.hu/api/publication/34502777},
	author = {Kalmár, Tibor and Jakab, Dániel and Maróti, Zoltán and Lakatos, Orsolya Judit and Vas, Tibor and Bereczki, Csaba and Iványi, Béla},
	doi = {10.3390/ijms25020966},
	journal-iso = {INT J MOL SCI},
	journal = {INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES},
	volume = {25},
	unique-id = {34502777},
	issn = {1661-6596},
	abstract = {Dent disease type 1 is characterized by pathogenic CLCN5 gene variants and impaired receptor-mediated endocytosis in proximal tubules. However, mutation-related abnormalities in proximal tubules have not yet been described. Here, we present three patients with CLCN5 alterations and distinct morphological changes of the apical endocytic-lysosomal apparatus. The proximal tubular ultrastructure was investigated in kidney biopsy samples of three boys genotyped for non-nephrotic proteinuria. Controls: seven patients with nephrotic-range glomerular proteinuria. The genotyping findings revealed an already-known missense mutation in one patient and hitherto undescribed frameshift variants in two patients. Low-molecular-weight proteinuria, focal global glomerulosclerosis, proximal tubular changes, and tubular calcium deposits characterized each case. Three subsets of proximal tubular cells were observed: those without any abnormality, those with aplasia of apical endocytic-lysosomal apparatus and shrinkage of cells, and those with hypoplasia of apical endocytic apparatus, accumulation of proteinaceous substance in dysmorphic lysosomes, and dysmorphic mitochondria. The distribution of subsets varied from patient to patient. In one patient with a frameshift variant, an oxidative stress-like injury of proximal tubular cells and podocytes accompanied the above-mentioned alterations. Focal aplasia/hypoplasia of apical endocytic apparatus and subsequent changes in cytoplasmic organelles characterized proximal tubules in the CLCN5 pathogenic variants.},
	year = {2024},
	eissn = {1422-0067},
	orcid-numbers = {Kalmár, Tibor/0000-0002-0419-2009; Maróti, Zoltán/0000-0002-0515-117X; Bereczki, Csaba/0000-0003-0091-3558}
}

@article{MTMT:34560639,
	title = {SGLT2-GÁTLÓ DAPAGLIFLOZIN EREDMÉNYES ALKALMAZÁSA NEPHROSIS SZINDRÓMÁVAL JÁRÓ, SZÖVETTANILAG IGAZOLT DIABETESES VESEBETEGSÉGBEN},
	url = {https://m2.mtmt.hu/api/publication/34560639},
	author = {Fejes, Imola and Bajcsi, Dóra and Czakó, László and Turkevi-Nagy, Sándor and Iványi, Béla and Ábrahám, György and Várkonyi, Tamás and Lengyel, Csaba Attila and Légrády, Péter},
	journal-iso = {MBA},
	journal = {MAGYAR BELORVOSI ARCHIVUM},
	volume = {76},
	unique-id = {34560639},
	issn = {0133-5464},
	year = {2023},
	pages = {306-306},
	orcid-numbers = {Czakó, László/0000-0002-6331-0802; Ábrahám, György/0000-0002-2272-2317; Várkonyi, Tamás/0000-0001-6833-3563; Lengyel, Csaba Attila/0000-0002-0434-0067}
}

@article{MTMT:34441379,
	title = {Phenotype–Genotype Correlations in Three Different Cases of Adult-Onset Genetic Focal Segmental Glomerulosclerosis},
	url = {https://m2.mtmt.hu/api/publication/34441379},
	author = {Kalmár, Tibor and Turkevi-Nagy, Sándor and Bitó, László and Kaizer, László and Maróti, Zoltán and Jakab, Dániel and Letoha, Annamária and Légrády, Péter and Iványi, Béla},
	doi = {10.3390/ijms242417489},
	journal-iso = {INT J MOL SCI},
	journal = {INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES},
	volume = {24},
	unique-id = {34441379},
	issn = {1661-6596},
	abstract = {This study highlights the importance of a combined diagnostic approach in the diagnosis of rare diseases, such as adult-onset genetic FSGS. We present three adult patient cases evaluated with kidney biopsy for proteinuria, chronic kidney disease, and hypertension, which were suggestive of adult-onset genetic FSGS. Renal biopsy samples and formalin-fixed, paraffin-embedded fetal kidneys were evaluated using standard light microscopical stainings, direct immunofluorescence on cryostat sections, and electron microscopy. Clinical exome sequencing was performed for each case, and 45 FSGS-related genes were analyzed. Identifying mutations in the PAX2, ACTN4, and COL4A5 genes have prompted a re-evaluation of the previous histopathological examinations. The PAX2 mutation led to a thinner nephrogenic zone and decreased number of glomeruli, resulting in oligohydramnios during fetal development and oligomeganephronia and adaptive focal-segmental glomerulosclerosis in adulthood. The ACTN4 mutation caused distinct electron-dense aggregates in podocyte cell bodies, while the COL4A5 mutation led to segmental sclerosis of glomeruli with marked interstitial fibrosis and tubular atrophy. The identification of specific mutations and their histopathological consequences can lead to a better understanding of the disease and its progression, as well as potential treatment options.},
	year = {2023},
	eissn = {1422-0067},
	orcid-numbers = {Kalmár, Tibor/0000-0002-0419-2009; Maróti, Zoltán/0000-0002-0515-117X}
}

@misc{MTMT:34172107,
	title = {Analysis of renal cell carcinoma in end-stage renal disease of Hungarian patients},
	url = {https://m2.mtmt.hu/api/publication/34172107},
	author = {Kuthi, Levente and Sánta, Fanni Viktória and Pósfai, Boglárka and Semjén, Dávid and Borbála, Dénes and Somorácz, Áron and Fintha, Attila and Forika, Gertrud and Jenei, Alex and Micsik, Tamás and Dobi, Deján and Kornélia, Eizler and Nándor, Giba and Iványi, Béla and Sejben, Anita},
	unique-id = {34172107},
	year = {2023},
	orcid-numbers = {Kuthi, Levente/0000-0001-9247-6679; Somorácz, Áron/0000-0003-4015-2263; Fintha, Attila/0000-0002-0519-8170; Forika, Gertrud/0000-0001-9622-1040; Sejben, Anita/0000-0002-9434-2989}
}

@article{MTMT:34154918,
	title = {Fabry-betegséget okoz-e a GLA gén p.Ala143Thr variánsa? [Does the GLA p.Ala143Thr variant cause Fabry disease?]},
	url = {https://m2.mtmt.hu/api/publication/34154918},
	author = {Nagy, Viktória and Rácz, Gergely and Takács, Hedvig and Radics, Bence and Borbás, János and Kormányos, Árpád and Csányi, Beáta and Hategan, Lídia and Iványi, Béla and Nagy, István and Hegedűs, Zoltán and Sepp, Róbert},
	doi = {10.26430/CHUNGARICA.2023.53.4.343},
	journal-iso = {CARDIOL HUNG},
	journal = {CARDIOLOGIA HUNGARICA},
	volume = {53},
	unique-id = {34154918},
	issn = {0133-5596},
	abstract = {Háttér: A hipertrófiás cardiomyopathia (HCM), és annak fenotípusát utánzó HCM-fenokópiák, pl. a Fabry-betegség kardiális manifesztációjának differenciáldiagnosztikai elkülönítése jelentős nehézséget okozhat a mindennapi klinikai gyakorlatban. Esetismertetés: A jelen észlelésekor 55 éves férfi beteg korábbi anamnézisében hipertónia, több alkalommal hipertenzív excessus miatti kórházi felvétel, ateroszklerózis, COPD, veseérintettség és stroke szerepelt. Egyre fokozódó fulladás és kifejezett terhelési intolerancia miatt indított kardiológiai kivizsgálása során jelentős balkamra-hipertrófia (IVS: 21 mm, PW: 17 mm) igazolódott, szignifikáns vitium vagy bal kamra kiáramlási pálya obstrukció nélkül. A bal kamra ejekciós frakció megtartott (EF: 64%) volt, csökkent bal kamrai globális longitudinális strain (GLS: –11,8 %) mellett, a bal kamrai töltőnyomás nem volt emelkedett. Szív-MRI-vizsgálat megerősítette a súlyos balkamra-hipertrófia (LVmax: 22 mm) jelenlétét, diffúz, kiterjedt késői kontraszthalmozással, amely a basalis, inferolateralis falon volt a legkifejezettebb. A beteg laborvizsgálata mérsékelten emelkedett NT-proBNP (427 pg/ml) és troponin T (41 ng/ml) értéket, csökkent vesefunkciót (eGFR: 59 ml/min/m2 ) és enyhe proteinuriát igazolt. A felmerülő Fabry-betegség irányában végzett specifikus vizsgálatok normális lyso-Gb3 értéket és mérsékelten csökkent alfa-galaktozidáz enzimszintet (a normális referenciaérték 45%-a) mutatott. A GLA gén genetikai vizsgálata egy bizonytalan hatású variánsként klasszifikált p.Ala143Thr variánst igazolt (NM_000169.2:c.427G>A, rs104894845). Tekintettel arra, hogy a képalkotó vizsgálatok a felmerült tárolási és infiltratív szívizom-betegségeket egyértelműen sem kizárni, sem megerősíteni nem tudták, szívizom-biopsziát végeztünk, amely Fabry-betegséget vagy infiltratív betegséget egyértelműen kizárt, hipertrófiás cardiomyopathiára jellemző eltéréseket (fibrosis, myofiber disarray) mutatott. Következtetés: A hipertrófiás cardiomyopathiát utánzó fenokópiák kardiális manifesztációjának elkülönítésére multidiszciplináris megközelítés, részletes képalkotó vizsgálatok, szükség esetén szívizom-biopszia és genetikai vizsgálat nyújthat segítséget.},
	year = {2023},
	eissn = {1588-0230},
	pages = {343-350},
	orcid-numbers = {Kormányos, Árpád/0000-0002-7052-2184; Sepp, Róbert/0000-0003-4964-1661}
}

@misc{MTMT:34118786,
	title = {Diagnostic approach to genetic diseases of the nephron},
	url = {https://m2.mtmt.hu/api/publication/34118786},
	author = {Turkevi-Nagy, Sándor and Kalmár, Tibor and Jakab, Dániel and Bitó, László and Légrády, Péter and Bereczki, Csaba and Iványi, Béla},
	unique-id = {34118786},
	year = {2023},
	orcid-numbers = {Kalmár, Tibor/0000-0002-0419-2009; Bereczki, Csaba/0000-0003-0091-3558}
}

@article{MTMT:34104677,
	title = {The value of PLA2R antigen and IgG subclass staining relative to anti-PLA2R seropositivity in the differential diagnosis of membranous nephropathy},
	url = {https://m2.mtmt.hu/api/publication/34104677},
	author = {Bajcsi, Dóra and Bitó, László and Turkevi-Nagy, Sándor and Nyári, Tibor András and Kemény, Éva and Légrády, Péter and Ábrahám, György and Iványi, Béla},
	doi = {10.1186/s12882-023-03273-4},
	journal-iso = {BMC NEPHROL},
	journal = {BMC NEPHROLOGY},
	volume = {24},
	unique-id = {34104677},
	issn = {1471-2369},
	abstract = {The diagnostic performance of PLA2R and IgG subclass staining of kidney biopsies relative to anti-PLA2R seropositivity in the differentiation of primary and secondary membranous nephropathy (pMN, sMN) was examined. Besides PLA2R staining - which has a lower specificity than anti-PLA2R antibody serology - there is insufficient knowledge to decide which IgG1-4 subtype immunohistological patterns (IgG4-dominance, IgG4-dominance/IgG1-IgG4-codominance or IgG4-dominance/IgG4-codominance with any IgG subtype) could be used to distinguish between pMN and sMN.87 consecutive Hungarian patients (84 Caucasians, 3 Romas) with the biopsy diagnosis of MN were classified clinically as pMN (n = 63) or sMN (n = 24). The PLA2R and IgG subclass staining was part of the diagnostic protocol. Anti-PLA2R antibodies were determined by an indirect immunofluorescence test in 74 patients with disease activity.For pMN, the sensitivity of anti-PLA2R seropositivity was 61.1%, and the specificity was 90.0%; and similar values for PLA2R staining were 81.0%, and 66.7%, respectively. In all stages of pMN, IgG4-dominance was the dominant subclass pattern, while the second most frequent was IgG3/IgG4-codominance. The sensitivity and specificity scores were: IgG4-dominance 52.2% and 91.7%, IgG4-dominance/IgG3-IgG4-codominance 76.2% and 87.5%, IgG4-dominance/IgG1-IgG4-codominance 64.2% and 75%, and IgG4-dominance/codominance with any IgG subclass 92.1% and 70.8%, respectively. Anti-PLA2R seropositivity, glomerular PLA2R, and IgG4-dominance/codominance significantly correlated with each other. The IgG4 subclass was rarely encountered in sMN.In our series, IgG4-dominance had the highest specificity in the differentiation of MN, just as high as that for anti-PLA2R seropositivity. The specificity values of PLA2R staining and IgG4-dominance/codominance with any IgG subclass or IgG4-dominance/IgG1-IgG4 codominance were ≤ 75%. Apart from IgG4 dominance, IgG4-dominance/IgG3-IgG4-codominance also had good statistical value in differentiating pMN from sMN. As IgG subclass switching during the progression of pMN was not the feature of our cohort, pMN in Hungarian patients is presumed to be an IgG4-related disorder right from the start. Although anti-PLA2R seropositivity has become the cornerstone for diagnosing pMN, if a kidney biopsy evaluation is conducted, besides the staining of PLA2R antigen, the evaluation of IgG subclasses provides relevant information for a differential diagnosis. Even in cases with IgG4-dominance, however, malignancy should be thoroughly checked.},
	keywords = {SPECIFICITY; Membranous nephropathy; IgG subclass; anti-PLA2R antibodies; IgG4-dominance; PLA2R antigen},
	year = {2023},
	eissn = {1471-2369},
	orcid-numbers = {Nyári, Tibor András/0000-0001-8900-6641; Ábrahám, György/0000-0002-2272-2317}
}

@article{MTMT:33862264,
	title = {Ritka tubulopathia: Dent-betegség a focalis segmentalis glomerularis sclerosis hátterében [A rare tubulopathy: Dent's disease in the background of focal segmental glomerular sclerosis]},
	url = {https://m2.mtmt.hu/api/publication/33862264},
	author = {Jakab, Dániel and Maróti, Zoltán and Iványi, Béla and Bereczki, Csaba and Kalmár, Tibor},
	doi = {10.1556/650.2023.32787},
	journal-iso = {ORV HETIL},
	journal = {ORVOSI HETILAP},
	volume = {164},
	unique-id = {33862264},
	issn = {0030-6002},
	abstract = {A Dent-betegség heterogén genetikai háttérrel rendelkező, a proximalis tubulopathiák csoportjába tartozó kórkép. A klinikailag típusos kórképet kis molekulatömegű proteinuria, hypercalciuria, nephrocalcinosis/vesekövesség és a vesefunkció lassú, progresszív romlása jellemzi. A klinikai tünetek hátterében a proximalis tubulusok receptor mediálta endocytosisának a genetikai defektusa áll (a legtöbbször CLCN5 -mutáció). A típusos fenotípust extrarenalis tünetek is kísérhetik. Klinikai gyanú esetén a betegség a legtöbbször genetikai vizsgálattal igazolható, a diagnózis felállításához nem szükséges a vese biopsziás vizsgálata. A fenotípust esetenként nephroticus mértékű proteinuria vagy ismeretlen eredetű veseelégtelenség színesíti, melyek indikálhatják a vesebiopszia elvégzését. A szakirodalomban kevés olyan tanulmány található, amely a Dent-betegségről szól, és a vese hisztopatológiai leletét is tartalmazza. A betegség kórtana alapján, a várható tubularis károsodás mellett, az esetek jelentős részében a glomerulusok focalis globalis és/vagy focalis segmentalis hegesedése is fennáll. Orv Hetil. 2023; 164(20): 788–791.},
	year = {2023},
	eissn = {1788-6120},
	pages = {788-791},
	orcid-numbers = {Maróti, Zoltán/0000-0002-0515-117X; Bereczki, Csaba/0000-0003-0091-3558; Kalmár, Tibor/0000-0002-0419-2009}
}

@article{MTMT:33834003,
	title = {Hypertophiás obstruktív cardiomyopathia ritka differenciál diagnosztikai entitása = Rare differential diagnostic entity of obstructive hypertrophic cardiomyopathy},
	url = {https://m2.mtmt.hu/api/publication/33834003},
	author = {Vidács, DL and Nagy, Viktória and Takács, Hedvig and Radics, Bence and Bari, Gábor and Rácz, Gergely and Kormányos, Árpád and Borbás, János and Iványi, Béla and Sepp, Róbert},
	journal-iso = {CARDIOL HUNG},
	journal = {CARDIOLOGIA HUNGARICA},
	volume = {53},
	unique-id = {33834003},
	issn = {0133-5596},
	year = {2023},
	eissn = {1588-0230},
	pages = {A251-A251},
	orcid-numbers = {Kormányos, Árpád/0000-0002-7052-2184; Sepp, Róbert/0000-0003-4964-1661}
}

@article{MTMT:33602988,
	title = {Renal cell carcinoma in end-stage renal disease: A retrospective study in patients from Hungary},
	url = {https://m2.mtmt.hu/api/publication/33602988},
	author = {Semjén, Dávid and Dénes, Borbála and Somorácz, Áron and Fintha, Attila and Forika, Gertrud and Jenei, Alex and Dobi, Deján and Micsik, Tamás and Eizler, Kornélia Veronika and Giba, Nándor and Sánta, Fanni Viktória and Sejben, Anita and Iványi, Béla and Kuthi, Levente},
	doi = {10.1159/000529276},
	journal-iso = {PATHOBIOLOGY},
	journal = {PATHOBIOLOGY},
	volume = {90},
	unique-id = {33602988},
	issn = {1015-2008},
	abstract = {Introduction: End-stage renal disease (ESRD) and acquired cystic kidney disease (ACKD) are known risk factors for renal cell carcinoma (RCC). Hereby, the clinicopathological features of RCCs developed in ESRD were investigated. Methods: A database consisting of 34 tumors from 31 patients with ESRD among 2 566 nephrectomy samples of RCC was built. The demographic, clinical, and follow-up data along with pathological parameters were analyzed. The RCCs were diagnosed according to the current WHO Classification of Urinary and Male Genital Tumors. Results: Twenty-two tumors developed in men and 12 in women, with a median age of 56 years (range: 27-75 years). The causes of ESRD were glomerulonephritis (n=7), hypertensive kidney disease (n=6), autosomal dominant polycystic kidney disease (n=6), chronic pyelonephritis (n=4), diabetic nephropathy (n=3), chemotherapy-induced nephropathy (n=1), and undetermined (n=4). ACKD complicated ESRD in 12 patients. The following histological subtypes were identified: clear cell RCC (n=19), papillary RCC (n=5), clear cell papillary tumor (n=5), ACKD RCC (n=3), and eosinophilic solid and cystic RCC (n=2). The median tumor size was 31 mm (range: 10-80 mm), and 32 tumors were confined to the kidney (pT1-pT2). There was no tumor-specific death during the period of this study. Progression was registered in one patient.Conclusion: In our cohort, the most common RCC subtype was clear cell RCC (55%), with a frequency that exceeded international data appreciably (14-25%). The incidence of clear cell papillary tumor and ACKD RCC (14.7% and 8.5%) was lower than data reported in the literature (30% and 40%). Our results indicate a favorable prognosis of RCC in ESRD.},
	year = {2023},
	eissn = {1423-0291},
	pages = {322-332},
	orcid-numbers = {Fintha, Attila/0000-0002-0519-8170; Forika, Gertrud/0000-0001-9622-1040; Micsik, Tamás/0000-0001-7329-1265; Sejben, Anita/0000-0002-9434-2989; Kuthi, Levente/0000-0001-9247-6679}
}