Renal Calculus in Floating-Harbor Syndrome: A Case Report

被引:3
作者
Shields, Lisa B. E. [1 ]
Peppas, Dennis S. [2 ]
Rosenberg, Eran [2 ]
机构
[1] Norton Healthcare, Norton Neurosci Inst, Louisville, KY USA
[2] Norton Healthcare, Norton Childrens Urol, Norton Med Plaza 3 St Matthews, Louisville, KY 40207 USA
关键词
Calculi; Floating-Harbor syndrome; urology; renal; urinary; PATIENT; SRCAP; GIRL;
D O I
10.1016/j.pedhc.2018.07.009
中图分类号
R19 [保健组织与事业(卫生事业管理)];
学科分类号
摘要
Floating-Harbor syndrome is a rare condition marked by short stature and delayed bone age, characteristic facial features, and speech impairment. Floating-Harbor syndrome commonly results from a sporadic genetic mutation. Renal abnormalities have rarely been encountered. We report the first patient with Floating-Harbor syndrome who spontaneously passed a renal calculus consisting of calcium oxalate monohydrate and calcium oxalate dihydrate. A renal ultrasound showed echotexture within the renal pyramids, hydronephrosis, and a cyst. Pediatric nurse practitioners should be alert to the unique features associated with Floating-Harbor syndrome and be prepared to monitor and treat the renal abnormalities that may accompany this uncommon condition.
引用
收藏
页码:97 / 101
页数:5
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