Literature DB >> 29557611

Renal manifestations in children with Alagille syndrome.

Diana Di Pinto1, Marta Adragna2.   

Abstract

INTRODUCTION: Alagille syndrome (AS) is a cholestatic disease secondary to scarcity of interlobular bile ducts. It is associated with extrahepatic manifestations, and renal involvement is frequent.
OBJECTIVES: To describe the prevalence, type and outcome of renal pathology in children with AS. PATIENTS AND METHODS: The presence and outcome of renal pathology was retrospectively studied in 21 children who met AS criteria.
RESULTS: Renal pathology was observed in 18 patients (85.7%): (1) ultrasound variations in 7 patients (6 cases of bilateral renal dysplasia and 1 case of renal agenesis); (2) distal renal tubular acidosis in 2 patients; (3) a drop in glomerular filtration and/or proteinuria in 16 patients. The frequency of a drop in glomerular filtration was similar between patients with and without pathological kidney ultrasound findings.
CONCLUSIONS: Our study confirms a high prevalence of renal involvement, which enhances the importance of diagnosis and renal function follow-up in children with AS. Sociedad Argentina de Pediatría.

Entities:  

Keywords:  Alagille syndrome; Kidney diseases

Mesh:

Year:  2018        PMID: 29557611     DOI: 10.5546/aap.2018.eng.149

Source DB:  PubMed          Journal:  Arch Argent Pediatr        ISSN: 0325-0075            Impact factor:   0.635


  1 in total

1.  Novel JAG1 Deletion Variant in Patient with Atypical Alagille Syndrome.

Authors:  Emanuele Micaglio; Andreea Alina Andronache; Paola Carrera; Michelle M Monasky; Emanuela T Locati; Barbara Pirola; Silvia Presi; Mario Carminati; Maurizio Ferrari; Alessandro Giamberti; Carlo Pappone
Journal:  Int J Mol Sci       Date:  2019-12-11       Impact factor: 5.923

  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.