Blau syndrome with hypertension and hepatic granulomas: a case report and literature review.

ABSTRACT:

Background

Blau syndrome (BS) is a monogenic disorder caused by NOD2 gene variants characterized by the triad of granulomatous polyarthritis, rash, and uveitis. Atypical symptoms were recognized in one-third to one-half of individuals with BS. This study aims to describe the clinical features of BS patients with hypertension and digestive system involvement.

Methods

The complete clinical data of a BS patient complicated with hypertension and hepatic granulomas were collected and documented. We also performed a literature search to find all reported cases of BS with hypertension and digestive system involvement.

Results

We reported the case of a 19-year-old man who presented with early onset symmetric polyarthritis and hypertension at age 5 and hepatic granuloma

SUBMITTER: Yao F 

PROVIDER: S-EPMC10415045 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature