Assessment of cystic fibrosis related liver disease in a pediatric cohort

Gastroenterología y Hepatología (English Edition) Pub Date : 2025-05-01 DOI:10.1016/j.gastre.2025.502321

Saioa Vicente-Santamaría , María Emilia Torres-Guerrero , Miguel García-González , Ana Tabares-González , Celia Gascón-Galindo , Concepción Marina López-Cárdenes , Enrique Blitz-Castro , Ana Morales-Tirado , María Inmaculada Mota-Goitia , José Ramón Gutiérrez-Martínez , Carlos Tutau-Gómez , Ruth García-Romero , Enrique Salcedo-Lobato , Luis Peña-Quintana , Ana Reyes-Domínguez , Encarnación Torcuato-Rubio , Pilar Ortiz-Pérez , Ana Estefanía Fernández-Lorenzo , Ana Moreno-Álvarez , Alfredo Solar-Boga , David González-Jiménez

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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; T Student [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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儿童队列中囊性纤维化相关肝病的评估

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的表现是由于CF跨膜受体转运体（CFTR）基因的突变，该基因编码一种蛋白质（CFTR），该蛋白质在上皮细胞中作为阴离子转运体（主要是氯）表达。囊性纤维化相关性肝病（CFRLD）包括一系列肝胆表现，其诊断和随访仍然是一个挑战。方法对10个西班牙囊性纤维化单位进行横断面描述性研究。获得临床及生化数据。根据ESPGHAN 2017标准，患者根据肝脏受累情况分为3组。肝脏硬度评估瞬时弹性图（TE）和腹部超声结果记录。使用SPSS v25.0进行统计。结果我们获得了155例小儿CF患者的肝脏TE数据。44例为CFRLD， 38例（86%）为CFRLD无肝硬化，6例（14%）为肝硬化。无CFRLD的14例（12%）有超声异常。非CFRLD的平均肝弹性图值（kPa）为4.7 (3.5 ~ 5.3)，CFRLD的平均肝弹性图值（kPa）为6.09 (4.4 ~ 6.7)(p = 0.01；学生[T])。结论scfrld在CF患儿中很常见，瞬时弹性成像是诊断和随访的有效方法，因为在CFRLD患者中发现较高的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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Gastroenterología y Hepatología (English Edition)

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