Arterial hypertension with brachydactyly in a 15-year-old boy
Arterial hypertension with brachydactyly in a 15-year-old boy
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DOI：
10.1007/s00467-003-1169-2
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发表时间：
2003-06
影响因子：
3
通讯作者：
M. Litwin;E. Jurkiewicz;K. Nowak;A. Kościesza;R. Grenda;K. Malczyk;I. Kościesza
中科院分区：
文献类型：
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作者：
M. Litwin;E. Jurkiewicz;K. Nowak;A. Kościesza;R. Grenda;K. Malczyk;I. Kościesza
常染色体显性短指伴高血压是唯一一种不依赖钠的单基因高血压。该病以E型短指畸形、身材矮小、动脉高压和小脑后下动脉异常袢引起神经血管冲突为特征。到目前为止，该综合征在土耳其的一个家庭和加拿大的两个家庭中被描述。我们报告一例15岁男孩因动脉高血压（160/100 mmHg）入院。他还主诉双侧双手麻木，视野恶化。检查显示身材矮小（156 cm），手脚骨畸形符合e型短指畸形。检眼镜显示视网膜动脉轻度狭窄。血清电解质、血气、肾功能正常。肾素活性和醛固酮浓度升高，24小时尿儿茶酚胺排泄量和尿类固醇谱在正常范围内。肾多普勒超声检查正常，但肾显像提示左肾血管改变。超声心动图检查，除轻度左心室肥厚外，一切正常。磁共振血管造影显示双侧异食环异常和神经血管冲突。肾动脉螺旋血管造影显示左肾动脉狭窄。非近亲父母和弟弟均健康，身高正常，无骨畸形，颅内血管正常。给予氨氯地平和美托洛尔，血压降至143/87。加利美尼定无效，再加依那普利。它进一步改善了血压控制。据我们所知，这是首例小儿散发性常染色体显性短指畸形伴高血压伴脑和肾动脉异常的病例。
Autosomal dominant brachydactyly with hypertension is the only form of monogenic hypertension which is not sodium dependent. The disease is characterized by brachydactyly type E, short stature, arterial hypertension and aberrant loop of posterior inferior cerebellar artery (PICA) causing neurovascular conflict. So far the syndrome was described in one family in Turkey and two in Canada. We report a case of a 15-year-old boy who was admitted because of arterial hypertension 160/100 mmHg. He complained also of attacks of bilateral numbness of hands with deterioration of visual field. Examination revealed short stature (156 cm) and bone deformities of hands and feet consistent with brachydactyly type E. Ophthalmoscopy showed mild narrowing of retinal arteries. Serum electrolytes, blood gases, and renal function were normal. Renin activity and aldosterone concentrations were raised, and 24-h urinary excretion of catecholamines and urinary steroid profile were in normal range. Renal Doppler ultrasound was normal, but renal scintigraphy suggested vascular changes in the left kidney. Echocardiographic examination, besides mild left ventricular hypertrophy, was normal. Magnetic resonance angiography (angio-MR) revealed bilateral abnormal PICA loops and neurovascular conflict. Spiral angiotomography of renal arteries revealed narrow additional left renal artery. Both nonconsanguineous parents and younger brother were healthy, with normal height, without bone deformities, and had normal intracranial vessels. Amlodipine and metoprolol were given, and blood pressure lowered to 143/87. Adding rilmenidine gave no effect and enalapril was then added. It led to further improvement in blood pressure control. To our knowledge, this is the first pediatric description of a sporadic form of autosomal dominant brachydactyly with hypertension with abnormalities of brain and renal arteries.