Possible PKHD1 Hot-spot Mutations Related to Early Kidney Function Failure or Hepatofibrosis in Chinese Children with ARPKD: A Retrospective Single Center Cohort Study and Literature Review.

Qiu, Li-Ru; Xu, Rong-Rong; Tang, Jin-Hui; Zhou, Jian-Hua

Qiu, Li-Ru; Xu, Rong-Rong; Tang, Jin-Hui; Zhou, Jian-Hua.

Afiliação

Qiu LR; Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430030, China.
Xu RR; Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430030, China.
Tang JH; Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430030, China.
Zhou JH; Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430030, China. jhzhou@tjh.tjmu.edu.cn.

Curr Med Sci ; 40(5): 835-844, 2020 Oct.

Article em En | MEDLINE | ID: mdl-33123899

Assuntos

Testes Genéticos; Cirrose Hepática/genética; Receptores de Superfície Celular/genética; Insuficiência Renal/genética; Estudos de Coortes; Éxons; Feminino; Genótipo; Humanos; Lactente; Rim/metabolismo; Rim/patologia; Cirrose Hepática/patologia; Masculino; Mutação/genética; Mutação de Sentido Incorreto/genética; Fenótipo; Gravidez; Insuficiência Renal/patologia

Palavras-chave

Chinese children; PKHD1 mutations; autosomal recessive polycystic kidney disease; clinical phenotype; genotypic characteristics

Texto completo

Imprimir

XML

PubMed Links

Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Testes Genéticos / Receptores de Superfície Celular / Insuficiência Renal / Cirrose Hepática Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Female / Humans / Infant / Male / Pregnancy Idioma: En Ano de publicação: 2020 Tipo de documento: Article

Texto completo

Imprimir

XML

PubMed Links

Buscar no Google