Surgical management of sclerosing encapsulating peritonitis (SEP) secondary to tuberculosis: A case report and review of the literature.

INTRODUCTION: Sclerosing encapsulating peritonitis (SEP), commonly known as abdominal cocoon syndrome (ACS), is considered one of the rare causes of bowel obstruction [1]. CASE PRESENTATION: In this article, we report the case of a 20-year-old male patient with a 6-month history of recurrent colicky right-sided upper abdominal pain accompanied by nausea, vomiting and bloating, which gradually increased in severity and frequency. The contrast-enhanced abdominal computed tomography suggested a small bowel obstruction with a differential diagnosis of SEP. Later exploratory laparotomy and histopathological examination confirmed the diagnosis of ACS. Intraoperative adhesiolysis was performed and the patient's symptoms resolved. DISCUSSION: This syndrome is characterised by the formation of a fibrous-collagenous membrane that partially or completely engulfs the small intestine, less commonly the colon and other abdominal organs. SEP is most commonly associated with long-term peritoneal dialysis, although drugs, peritoneal infection and systemic inflammatory disorders have been implicated. Patients often present with symptoms of partial bowel obstruction, which is difficult to diagnose before laparotomy. Of the available investigations, contrast-enhanced CT of the abdomen is the most sensitive, showing a fibrous sac-like membrane covering the intestinal loops and the fluid collection. Definitive treatment includes excision and adhesiolysis. CONCLUSION: This article presents a rare case and focuses on the management of this pathology with a review of the literature.

LRP5 variants may contribute to ADPKD.

Mutations in Polycystic Kidney Disease proteins (PKD1 or PKD2) are causative for autosomal dominant polycystic kidney disease (ADPKD). However, a small subset of ADPKD probands do not harbor a mutation in any of the known genes. Low density lipoprotein Receptor-related Protein 5 (LRP5) was recently associated with hepatic cystogenesis in isolated polycystic liver disease (PCLD). Here, we demonstrate that this gene may also have a role in unlinked and sporadic ADPKD patients. In a cohort of 79 unrelated patients with adult-onset ADPKD, we identified a total of four different LRP5 variants that were predicted to be pathogenic by in silico tools. One ADPKD patient has a positive family history for ADPKD and variant LRP5 c.1680G>T; p.(Trp560Cys) segregated with the disease. Although also two PKD1 variants probably affecting protein function were identified, luciferase activity assays presented for three LRP5 variants significant decreased signal activation of canonical Wnt signaling. This study contributes to the genetic spectrum of ADPKD. Introduction of the canonical Wnt signaling pathway provides new avenues for the study of the pathophysiology.

Whole-exome sequencing reveals LRP5 mutations and canonical Wnt signaling associated with hepatic cystogenesis.

Polycystic livers are seen in the rare inherited disorder isolated polycystic liver disease (PCLD) and are recognized as the most common extrarenal manifestation in autosomal dominant polycystic kidney disease. Hepatic cystogenesis is characterized by progressive proliferation of cholangiocytes, ultimately causing hepatomegaly. Genetically, polycystic liver disease is a heterogeneous disorder with incomplete penetrance and caused by mutations in PRKCSH, SEC63, PKD1, or PKD2. Genome-wide SNP typing and Sanger sequencing revealed no pathogenic variants in hitherto genes in an extended PCLD family. We performed whole-exome sequencing of DNA samples from two members. A heterozygous variant c.3562C > T located at a highly conserved amino acid position (p.R1188W) in the low density lipoprotein receptor-related protein 5 (LRP5) gene segregated with the disease (logarithm of odds score, 4.62) but was not observed in more than 1,000 unaffected individuals. Screening of LRP5 in a PCLD cohort identified three additional mutations in three unrelated families with polycystic livers (p.V454M, p.R1529S, and p.D1551N), again all undetected in controls. All variants were predicted to be damaging with profound structural effects on LRP5 protein domains. Liver cyst tissue and normal hepatic tissue samples from patients and controls showed abundant LRP5 expression by immunohistochemistry. Functional activity analyses indicated that mutant LRP5 led to reduced wingless signal activation. In conclusion, we demonstrate that germ-line LRP5 missense mutations are associated with hepatic cystogenesis. The findings presented in this study link the pathophysiology of PCLD to deregulation of the canonical wingless signaling pathway.