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3 results on '"Shtiza, D."'

1. Congenital Hepatic Fibrosis as an Early Sign of Presentation of ADPKD

Author

Sila L., Velmishi V., Saraci B., Dervishi E., Sila S., Shtiza D., and Cullufi P.

Subjects
autosomal polycystic kidney disease adkpd, congenital hepatic fibrosis chf, Genetics, QH426-470
Abstract

Autosomal dominant polycystic kidney disease (ADKPD) is the most frequent type of polycystic kidney disease. It is inherited through family members, with an incidence of approximately 1:400 to1:1000.Typically, individuals with ADKPD are identified between their fourth and fifth decade of life. ADKPD occurs as a results of mutation in one of the two genes, PDK1 and PDK2.Patients with PKD1 experience renal failure at an earlier onset than those with PKD2. We report on a 2 year-old-boy with hepatosplenomegaly and signs of portal hypertension. Both kidneys appeared normal until the age of 8, when multiple cysts developed, this being typical of ADKPD. Suspecting ADKPD, we performed whole exome sequencing, thereby confirming a mutation of c.6730 673del p.(Ser 2244Hisfs*17). The investigations of all family members found other individuals affected by ADKPD.

Published
2022
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2. Kidney Versus Combined Kidney and Liver Transplantation in Young People With Autosomal Recessive Polycystic Kidney Disease: Data From the European Society for Pediatric Nephrology/European Renal Association−European Dialysis and Transplant (ESPN/ERA-EDTA) Registry

Author

Levtchenko, E., Haffner, D., Bjerre, A., Massy, Z., Shtiza, D., Kramar, R., Oberbauer, R., Baiko, S., Sukalo, A., van Hoeck, K., Collart, F., des Grottes, J.M., Pokrajac, D., Roussinov, D., Batinić, D., Lemac, M., Slavicek, J., Seeman, T., Vondrak, K., Heaf, J.G., Toots, U., Finne, P., Grönhagen-Riska, C., Couchoud, C., Lasalle, M, Sahpazova, E, Abazi, N, Ristoka Bojkovska, N, von Gersdorff, G, Scholz, C, Tönshoff, B, Krupka, K, Höcker, B, Pape, L, Afentakis, N, Kapogiannis, A, Printza, N, Reusz, G, Berecki, Cs, Szabó, A, Szabó, T, Györke, Z.S., Kis, E., Palsson, R., Edvardsson, V., Gianoglio, B., Maringhini, S., Pecoraro, C., Picca, S., Testa, S., Vidal, E., Verrina, E., Jankauskiene, A., Pundziene, B., Said-Conti, V., Gatcan, S., Berbeca, O., Zaikova, N., Pavićević, S., Leivestad, T., Zurowska, A., Zagozdzon, I., Mota, C., Almeida, M., Afonso, C., Mircescu, G., Garneata, L., Molchanova, E.A., Tomilina, N.A., Bikbov, B.T., Kostic, M., Peco-Antic, A., Spasojevic-Dimitrijeva, B., Milosevski-Lomic, G., Paripovic, D., Puric, S., Kruscic, D., Podracka, L., Kolvek, G., Buturovic-Ponikvar, J., Novljan, G., Battelino, N., Alonso Melgar, A., Schön, S., Prütz, K.G., Backmän, L., Stendahl, M., Evans, M., Rippe, B., Kuenhi, C.E., Maurer, E., Laube, G.F., Tschumi, S., Parvex, P., Hoitsma, A., Hemke, A., Topaloglu, R., Duzova, A., Ivanov, D., Pruthi, R., Braddon, F., Mannings, S., Cassula, A., Sinha, M.D., Mekahli, Djalila, van Stralen, Karlijn J., Bonthuis, Marjolein, Jager, Kitty J., Balat, Ayşe, Benetti, Elisa, Godefroid, Nathalie, Edvardsson, Vidar O., Heaf, James G., Jankauskiene, Augustina, Kerecuk, Larissa, Marinova, Svetlana, Puteo, Flora, Seeman, Tomas, Zurowska, Aleksandra, Pirenne, Jacques, Schaefer, Franz, and Groothoff, Jaap W.

Published
2016
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