Dent Disease 1 Presented Early with Bartter-Like Syndrome Features and Rickets: A Case Report.

ABSTRACT:

Introduction

Dent disease (DD) is characterized by a triad of low-molecular-weight proteinuria, hypercalciuria, and nephrocalcinosis/nephrolithiasis. However, some cases were confounded by other clinical symptoms and signs, namely, hypokalemia and rickets, which resulted in misleading diagnoses. A diagnosis of DD could be delayed even in high-resource countries due to its variability of phenotypes and rarity, causing a lack of awareness in both medical practitioners and parents. Moreover, in low-resource countries, laboratory test limitations can hinder the diagnosis.

Case presentation

A thirteen-year-old boy presented with an acute episode of severe hypokalemia following vomiting due to COVID medication side effects. He had lower extremities weakness, salt craving, and poly

SUBMITTER: Ambarsari CG 

PROVIDER: S-EPMC11850026 | biostudies-literature | 2025 Jan-Dec

REPOSITORIES: biostudies-literature