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au:CAETANO, LILIAN ARAUJO
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Diretrizes Brasileiras de Hipertensão Arterial – 2020
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Barroso, Weimar Kunz Sebba
; Rodrigues, Cibele Isaac Saad
; Bortolotto, Luiz Aparecido
; Mota-Gomes, Marco Antônio
; Brandão, Andréa Araujo
; Feitosa, Audes Diógenes de Magalhães
; Machado, Carlos Alberto
; Poli-de-Figueiredo, Carlos Eduardo
; Amodeo, Celso
; Mion Júnior, Décio
; Barbosa, Eduardo Costa Duarte
; Nobre, Fernando
; Guimarães, Isabel Cristina Britto
; Vilela-Martin, José Fernando
; Yugar-Toledo, Juan Carlos
; Magalhães, Maria Eliane Campos
; Neves, Mário Fritsch Toros
; Jardim, Paulo César Brandão Veiga
; Miranda, Roberto Dischinger
; Póvoa, Rui Manuel dos Santos
; Fuchs, Sandra C
; Alessi, Alexandre
; Lucena, Alexandre Jorge Gomes de
; Avezum, Alvaro
; Sousa, Ana Luiza Lima
; Pio-Abreu, Andrea
; Sposito, Andrei Carvalho
; Pierin, Angela Maria Geraldo
; Paiva, Annelise Machado Gomes de
; Spinelli, Antonio Carlos de Souza
; Nogueira, Armando da Rocha
; Dinamarco, Nelson
; Eibel, Bruna
; Forjaz, Cláudia Lúcia de Moraes
; Zanini, Claudia Regina de Oliveira
; Souza, Cristiane Bueno de
; Souza, Dilma do Socorro Moraes de
; Nilson, Eduardo Augusto Fernandes
; Costa, Elisa Franco de Assis
; Freitas, Elizabete Viana de
; Duarte, Elizabeth da Rosa
; Muxfeldt, Elizabeth Silaid
; Lima Júnior, Emilton
; Campana, Erika Maria Gonçalves
; Cesarino, Evandro José
; Marques, Fabiana
; Argenta, Fábio
; Consolim-Colombo, Fernanda Marciano
; Baptista, Fernanda Spadotto
; Almeida, Fernando Antonio de
; Borelli, Flávio Antonio de Oliveira
; Fuchs, Flávio Danni
; Plavnik, Frida Liane
; Salles, Gil Fernando
; Feitosa, Gilson Soares
; Silva, Giovanio Vieira da
; Guerra, Grazia Maria
; Moreno Júnior, Heitor
; Finimundi, Helius Carlos
; Back, Isabela de Carlos
; Oliveira Filho, João Bosco de
; Gemelli, João Roberto
; Mill, José Geraldo
; Ribeiro, José Marcio
; Lotaif, Leda A. Daud
; Costa, Lilian Soares da
; Magalhães, Lucélia Batista Neves Cunha
; Drager, Luciano Ferreira
; Martin, Luis Cuadrado
; Scala, Luiz César Nazário
; Almeida, Madson Q.
; Gowdak, Marcia Maria Godoy
; Klein, Marcia Regina Simas Torres
; Malachias, Marcus Vinícius Bolívar
; Kuschnir, Maria Cristina Caetano
; Pinheiro, Maria Eliete
; Borba, Mario Henrique Elesbão de
; Moreira Filho, Osni
; Passarelli Júnior, Oswaldo
; Coelho, Otavio Rizzi
; Vitorino, Priscila Valverde de Oliveira
; Ribeiro Junior, Renault Mattos
; Esporcatte, Roberto
; Franco, Roberto
; Pedrosa, Rodrigo
; Mulinari, Rogerio Andrade
; Paula, Rogério Baumgratz de
; Okawa, Rogério Toshiro Passos
; Rosa, Ronaldo Fernandes
; Amaral, Sandra Lia do
; Ferreira-Filho, Sebastião R.
; Kaiser, Sergio Emanuel
; Jardim, Thiago de Souza Veiga
; Guimarães, Vanildo
; Koch, Vera H.
; Oigman, Wille
; Nadruz, Wilson
.
https://doi.org/10.36660/abc.20201238
10948 downloads
2.
Searching for mutations in the HNF1B gene in a Brazilian cohort with renal cysts and hyperglycemia
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Dotto, Renata P.
; Santana, Lucas Santos de
; Lindsey, Susan C.
; Caetano, Lilian Araújo
; Franco, Luciana F.
; Moisés, Regina Célia M. S.
; Sa, João R.
; Nishiura, José Luiz
; Teles, Milena Gurgel
; Heilberg, Ita P.
; Dias-da-Silva, Magnus R.
; Giuffrida, Fernando M. A.
; Reis, André F.
.
ABSTRACT Objective To verify the presence of variants in HNF1B in a sample of the Brazilian population selected according to the presence of renal cysts associated with hyperglycemia. Subjects and methods We evaluated 28 unrelated patients with clinical suspicion of HNF1B mutation because of the concomitant presence of diabetes mellitus (DM) or prediabetes and renal cysts. Genotyping was accomplished using Sanger sequencing or multiplex ligation-dependent probe amplification (MLPA). In positive cases, available relatives were recruited. Results We found two patients with HNF1B mutations. The first presented the variant p.Pro328Leufs*48(c.983delC) and had DM, renal cysts, and hypomagnesemia. The second presented a heterozygous whole gene deletion in HNF1B, DM, renal cysts, body and tail pancreatic agenesis, and hypomagnesemia; this alteration was also found in his two siblings and his father. Conclusion The recruitment of suspected cases of HNF1B gene mutations in Brazilians due to hyperglycemia and renal cysts presents two positive cases. Our cases contribute to the annotation of clinical and biochemical phenotypes of this rare form of maturity-onset diabetes of the young (MODY).
https://doi.org/10.20945/2359-3997000000138
1160 downloads
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