Ahmed Amna Basheer M, Alsaleem Badr M Rasheed
Department of Pediatric Gastroenterology/Hepatology, Children's Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.
Case Rep Gastroenterol. 2021 Mar 4;15(1):290-295. doi: 10.1159/000511761. eCollection 2021 Jan-Apr.
Proprotein convertase (PC) deficiency is a rare autosomal recessive disorder caused by mutations in proprotein convertase subtilisin/kexin type 1 (). It is characterized by severe malabsorptive early-onset diarrhea, obesity, and systemic endocrinopathies. Only few cases have been reported in the literature; we have add two female sisters with some difference in clinical progress. Herein, we describe two sisters with congenital osmotic diarrhea diagnosed with PC1/3 deficiency, causing malabsorptive diarrhea and enteroendocrine dysfunction, who presented with chronic enteropathy with hypernatremia but with different expressivity. PC1/3 deficiency presents with symptoms and signs that mimic glucose-galactose malabsorption. Because of the clinical paucity and heterogeneity of congenital enteropathies, whole-exome sequencing may be of great help towards early diagnosis and effective treatment.
前蛋白转化酶（PC）缺乏症是一种罕见的常染色体隐性疾病，由前蛋白转化酶枯草杆菌蛋白酶/kexin 1型（）突变引起。其特征为严重的吸收不良性早发性腹泻、肥胖和全身性内分泌病。文献中仅报道了少数病例；我们增加了两名临床进展有所不同的女性姐妹病例。在此，我们描述了两名被诊断为PC1/3缺乏症的先天性渗透性腹泻姐妹，她们因PC1/3缺乏导致吸收不良性腹泻和肠内分泌功能障碍，表现为伴有高钠血症的慢性肠病，但表现形式不同。PC1/3缺乏症的症状和体征与葡萄糖-半乳糖吸收不良相似。由于先天性肠病的临床病例较少且具有异质性，全外显子测序可能对早期诊断和有效治疗有很大帮助。
