Chronic Liver Disease in Patients with Prolidase Deficiency: A Case Series.

IF 0.5 Q4 GASTROENTEROLOGY & HEPATOLOGY Case Reports in Gastroenterology Pub Date : 2024-02-01 eCollection Date: 2024-01-01 DOI:10.1159/000536117
Harish Gopalakrishna, Bilal Asif, Anjali Rai, Hari S Conjeevaram, Maria Mironova, David E Kleiner, Alexandra F Freeman, Theo Heller
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Abstract

Introduction: Prolidase deficiency is a rare autosomal recessive disorder caused by variants in the PEPD gene. Patients usually have multi-organ involvement and a wide range of clinical features including recurrent skin ulcers, dysmorphic facial features, recurrent infections, intellectual disability, and splenomegaly. Studies have shown that patients with prolidase deficiency may have hepatic manifestations including hepatomegaly and abnormal liver enzymes. However, there is no detailed description of liver disease in this patient population.

Case presentation: Here, we present 3 patients with prolidase deficiency with varying extents of hepatic involvement.

Conclusion: Prolidase deficiency patients with liver disease should be followed up long term to understand more about the pathophysiology and the impact of liver disease on long-term outcomes.

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Prolidase 缺乏症患者的慢性肝病:病例系列
简介Prolidase 缺乏症是一种罕见的常染色体隐性遗传疾病,由 PEPD 基因变异引起。患者通常有多器官受累和多种临床特征,包括反复皮肤溃疡、面部畸形、反复感染、智力障碍和脾肿大。研究显示,普罗利酶缺乏症患者可能有肝脏表现,包括肝肿大和肝酶异常。然而,目前还没有关于这类患者肝脏疾病的详细描述:在此,我们介绍了 3 例不同程度肝脏受累的普罗利酶缺乏症患者:结论:对患有肝病的普罗利酶缺乏症患者应进行长期随访,以进一步了解其病理生理学以及肝病对长期预后的影响。
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来源期刊
Case Reports in Gastroenterology
Case Reports in Gastroenterology Medicine-Gastroenterology
CiteScore
1.10
自引率
0.00%
发文量
99
审稿时长
7 weeks
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