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.

中文翻译：

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一名既往健康的 3 岁女性，患有高血压、蛋白尿和高钙尿症

摘要

一名没有明显病史的 3 岁女性患者因出现泡沫尿就诊于儿科医生。最初的定性检测显示她有中度蛋白尿，尽管她被偶然发现患有严重高血压（240/200 mmHg）。颈动脉和股骨区域的体格检查发现明显的收缩期血管杂音。实验室显示血清肌酐升高、低钾血症、代谢性碱中毒、肾素和醛固酮升高以及高钙尿症。超声心动图发现心室肥厚。腹部计算机断层扫描（CT）和头部磁共振血管造影显示肾窦区域有多条迂曲或中断的动脉和多处钙化。B 型超声检查显示颈动脉和股动脉壁增厚，并有许多点状钙化。基因检测显示ABCC6具有复杂的杂合突变（外显子 24：c.3340C > T 和内含子 30：c.4404-1G > A）。我们的专家小组审查了这名患有高血压、蛋白尿、高钙尿和血管异常的患者的评估以及罕见疾病的诊断和适当治疗。