Gastrointestinal Angiectasia in patients with chronic kidney disease: A matched case-control study.

BACKGROUND AND STUDY AIMS: Chronic kidney disease (CKD) is a well-known risk factor of gastrointestinal angiectasia (GIA). The aim was to compare this population with CDK patients without GIA. METHODS: Patients followed in the Nephrology Department of Tenon Hospital for which an endoscopy was performed between 2012 and 2022 were identified. Those with at least one GIA lesion were included ("GIA+" group). A matched control group for age, sex and GFR stage of patients with CKD and no GIA lesion ("GIA-" group) was constituted. A subgroup analysis compared patients with (SB+) and without (SB-) small-bowel involvement. RESULTS: A total of 55 patients were included in the GIA+ group. 36.3 % (n = 20) were active smokers and 29.1 % (n = 16) had peripheral arterial disease versus 16.4 % (n = 9) (OR 2.89, p = 0.03), and 9.1 % (n = 5) (OR 4.05, p = 0.015) in the GIA- group. Thirteen patients (23.6 %) had a SB lesion. Duodenal involvement was present in 69.2 % of cases in the SB+ group versus 28.6 % in the SB- group (p = 0.02). Median number of endoscopies, hemostatic technics and hospitalizations was 7, 3 and 6, versus 2 (p = 0.0001), 1 (p = 0.001) and 1 (p = 0.0002) in the SB- group. CONCLUSIONS: CKD patients with GIA had a greater cardiovascular risk with a higher incidence of vascular nephropathy. Small-bowel GIA were associated with a higher morbidity.

Inflammatory/juvenile-like polyps in neurofibromatosis type 1 associated with epithelial dysplasia.

The term "juvenile-like (inflammatory/hyperplastic) mucosal polyps" (JLIHMP) has been recently introduced to describe a spectrum of polypoid lesions in patients with neurofibromatosis type 1 (NF-1). Due to the scarce number of reported cases and histopathological similarities with entities such as sporadic/syndromic juvenile polyps or inflammatory fibroid polyps, this entity remains a subject of debate. We describe herein a case of multiple JLIHMPs in a patient with NF-1, and we document the presence of low-grade dysplasia within one of these polyps.

Submicroscopic deletions at 13q32.1 cause congenital microcoria.

Congenital microcoria (MCOR) is a rare autosomal-dominant disorder characterized by inability of the iris to dilate owing to absence of dilator pupillae muscle. So far, a dozen MCOR-affected families have been reported worldwide. By using whole-genome oligonucleotide array CGH, we have identified deletions at 13q32.1 segregating with MCOR in six families originating from France, Japan, and Mexico. Breakpoint sequence analyses showed nonrecurrent deletions in 5/6 families. The deletions varied from 35 kbp to 80 kbp in size, but invariably encompassed or interrupted only two genes: TGDS encoding the TDP-glucose 4,6-dehydratase and GPR180 encoding the G protein-coupled receptor 180, also known as intimal thickness-related receptor (ITR). Unlike TGDS which has no known function in muscle cells, GPR180 is involved in the regulation of smooth muscle cell growth. The identification of a null GPR180 mutation segregating over two generations with iridocorneal angle dysgenesis, which can be regarded as a MCOR endophenotype, is consistent with the view that deletions of this gene, with or without the loss of elements regulating the expression of neighboring genes, are the cause of MCOR.