# A previously healthy 3-year-old female with hypertension, proteinuria, and hypercalciuria

## TL;DR

A 3-year-old girl with no prior health issues developed high blood pressure, protein in her urine, and high calcium levels, leading to the diagnosis of a rare genetic disorder.

## Contribution

This case highlights the diagnosis of a rare genetic disease in a young child through clinical and genetic findings.

## Key findings

- The patient had hypertension, proteinuria, hypercalciuria, and vascular abnormalities.
- Genetic testing identified a complex heterozygous mutation in the ABCC6 gene.
- Imaging showed multiple calcifications and tortuous arteries, supporting the rare disease diagnosis.

## Abstract

A 3-year-old female patient with no significant medical history presented to her pediatrician with foamy urine. Initial testing revealed moderate proteinuria on qualitative testing, although she was incidentally noted to have severe hypertension (240/200 mmHg). Physical examination of the carotid and femoral areas revealed significant systolic vascular murmurs. Labs showed elevated serum creatinine, hypokalemia, metabolic alkalosis, elevated renin and aldosterone and hypercalciuria. Echocardiography identified ventricular hypertrophy. Computed tomography (CT) of the abdomen and magnetic resonance angiography of the head showed multiple tortuous or interrupted arteries and multiple calcifications in the renal sinus area. B-mode ultrasonography suggested thickening of the carotid and femoral artery walls, with numerous spotted calcifications. Genetic testing revealed that ABCC6 had a complex heterozygous mutation (exon 24: c.3340C > T and intron 30: c.4404-1G > A). Our panel of experts reviewed the evaluation of this patient with hypertension, proteinuria, hypercalciuria, and vascular abnormalities as well as the diagnosis and appropriate management of a rare disease.