Assessment of cystic fibrosis related liver disease in a pediatric cohort.

IF 2.2 4区医学 Q3 GASTROENTEROLOGY & HEPATOLOGY Gastroenterologia y hepatologia Pub Date : 2024-12-13 DOI:10.1016/j.gastrohep.2024.502321

S Vicente-Santamaría, M E Torres-Guerrero, M García-González, A Tabares-González, C Gascón-Galindo, C M López-Cárdenes, E Blitz-Castro, A Morales-Tirado, M I Mota Goitia, J R Gutiérrez Martínez, C Tutau Gómez, R García Romero, E Salcedo Lobato, L Peña Quintana, A Reyes Domínguez, E Torcuato Rubio, P Ortiz Pérez, A E Fernández-Lorenzo, A Moreno Álvarez, Alfonso Solar Boga, H Romero Rey, M Álvarez Beltrán, E Masip Simo, D González Jiménez

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引用次数: 0

Abstract

Background: Cystic fibrosis (CF) is an autosomal recessive, chronic, potentially lethal genetic disease. CF manifestations are due to mutations in the CF transmembrane receptor transporter (CFTR) gene which codes for a protein (CFTR) that acts as an anion transporter, mainly chlorine, at epithelial cells where it is expressed. Cystic fibrosis related liver disease (CFRLD) includes a spectrum of hepatobiliary manifestations whose diagnosis and follow-up remains a challenge.

Methods: Cross-sectional, descriptive study from 10 Spanish Cystic fibrosis Units. Clinical and biochemical data obtained. Patients categorized into 3 groups according to liver involvement based on ESPGHAN 2017 criteria. Liver stiffness assessed by transient elastography (TE) and findings from abdominal ultrasound recorded. Statistics performed using SPSS v25.0.

Results: We obtained hepatic TE data from 155 pediatric CF patients. Forty-four classified as CFRLD, 38 (86%) had CFRLD without cirrhosis and 6 (14%) had cirrhosis. Fourteen patients without CFRLD (12%) had ultrasound abnormalities. Mean liver elastography value (kPa) was 4.7 (3.5-5.3) in non-CFRLD and 6.09 (4.4-6.7) in CFRLD (p=0.01;Tstudent [T]).

Conclusions: CFRLD is common in children with CF. Transient elastography is a useful method for diagnosis and follow-up, as higher values of TE are found in patients with CFRLD.

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背景：囊性纤维化（CF）是一种常染色体隐性、慢性、潜在致死性遗传病。CF表现是由于CF跨膜受体转运体（CFTR）基因突变所致，该基因编码的蛋白质（CFTR）在其表达的上皮细胞中起阴离子转运作用，主要是氯。囊性纤维化相关肝病（CFRLD）包括一系列肝胆表现，其诊断和随访仍是一项挑战：方法：对西班牙 10 个囊性纤维化单位进行横断面描述性研究。获得临床和生化数据。根据 2017 年 ESPGHAN 标准，根据肝脏受累情况将患者分为 3 组。通过瞬态弹性成像（TE）评估肝脏硬度，并记录腹部超声波检查结果。使用 SPSS v25.0 进行统计：我们获得了155名儿科CF患者的肝脏TE数据。其中 44 例被归类为 CFRLD，38 例（86%）为无肝硬化的 CFRLD，6 例（14%）为肝硬化。14名无 CFRLD 的患者（12%）出现超声波异常。非CFRLD患者的平均肝脏弹性成像值（kPa）为4.7（3.5-5.3），CFRLD患者的平均肝脏弹性成像值（kPa）为6.09（4.4-6.7）（P=0.01；Tstudent [T]）：CFRLD在CF儿童中很常见。瞬态弹性成像是诊断和随访的有效方法，因为在 CFRLD 患者中发现了较高的 TE 值。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Gastroenterologia y hepatologia GASTROENTEROLOGY & HEPATOLOGY-

CiteScore

1.50

自引率

10.50%

发文量

147

审稿时长

48 days

期刊介绍： Gastroenterology and Hepatology is the first journal to cover the latest advances in pathology of the gastrointestinal tract, liver, pancreas, and bile ducts, making it an indispensable tool for gastroenterologists, hepatologists, internists and general practitioners.