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患有芬兰型先天性肾病综合征的婴儿出现胃重复囊肿:是并发还是巧合?

Gastric duplication cyst in an infant with Finnish-type congenital nephrotic syndrome: concurrence or coincidence?

作者信息

Güngör Tülin, Eroğlu Fehime Kara, Kargın Çakıcı Evrim, Yazılıtaş Fatma, Can Gökçe, Çelikkaya Evra, Karakaya Deniz, Kurt Şükür Eda Didem, Özaltın Fatih, Yağız Beytullah, Bülbül Mehmet

机构信息

Department of Pediatric Nephrology, Dr Sami Ulus Maternity and Child Health and Diseases Training and Research Hospital, Ankara, Turkey.

Department of Pediatric Nephrology, Hacettepe University Faculty of Medicine, Ankara, Turkey.

出版信息

Acta Clin Belg. 2021 Apr;76(2):155-157. doi: 10.1080/17843286.2019.1675333. Epub 2019 Oct 5.

Abstract

Congenital nephrotic syndrome (CNS) is a rare disorder characterized by massive proteinuria and marked edema manifesting in utero or during the first 3 months of life. CNS can be caused by congenital infections, allo-immune maternal disease or due to the genetic defects of podocyte proteins most commonly NPHS1. Here we present a case of Finnish-type congenital nephrotic syndrome along with feeding problems and abdominal distention which was diagnosed during follow-up as a gastric-duplication cyst with a novel mutation in the nephrin gene. CNS feeding problems are attributed mainly to primary disease but in literature there are case reports of patients with CNS and hypertrophic pyloric stenosis. NPHS1 is also expressed in the stomach tissue. Physicians should be aware of this rare extra-renal manifestation or coincidence of this rare disease.

摘要

先天性肾病综合征(CNS)是一种罕见的疾病,其特征为大量蛋白尿和明显水肿,在子宫内或出生后前3个月出现。CNS可由先天性感染、同种免疫性母体疾病或足细胞蛋白的遗传缺陷引起,最常见的是NPHS1。我们在此报告一例芬兰型先天性肾病综合征病例,该病例伴有喂养问题和腹胀,随访期间诊断为胃重复囊肿,同时伴有肾素基因的新突变。CNS喂养问题主要归因于原发性疾病,但文献中有CNS患者合并肥厚性幽门狭窄的病例报告。NPHS1也在胃组织中表达。医生应了解这种罕见的肾外表现或这种罕见疾病的巧合情况。

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