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

Area of Science:

• Nephrology
• Genetics
• Pediatrics

Background:

• Dent disease (DD) is characterized by low-molecular-weight proteinuria, hypercalciuria, and nephrocalcinosis/nephrolithiasis.
• Phenotypic variability and rarity can delay diagnosis, even in high-resource settings.
• Low-resource countries face additional diagnostic challenges due to laboratory limitations.

Observation:

• A 13-year-old boy presented with severe hypokalemia, weakness, salt craving, and short stature.
• Initial symptoms were misattributed to COVID medication side effects.
• Physical examination revealed hypotension, genu valgum, and laboratory findings consistent with pseudo-Bartter syndrome.

Findings:

• The patient exhibited hypokalemic metabolic alkalosis, increased urine potassium and chloride, and elevated calcium/creatinine ratio.
• Hypophosphatemia, hypomagnesemia, and decreased kidney function were noted.
• Genetic testing revealed a pathogenic variant in the CLCN5 gene, confirming X-linked Dent disease.

Implications:

• This case underscores the importance of considering Dent disease in the differential diagnosis of pediatric pseudo-Bartter syndrome.
• Measuring urinary low-molecular-weight proteins can aid in screening for DD in children with rickets and proteinuria.
• Increased awareness and accessible diagnostic tools are vital, particularly in low-resource settings.