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Home > West Medicine > Pediatrics > Pediatric Internal Med
百科

Familial hypophosphatemic rickets

小儿内科

Common symptoms

尿磷、骨代谢减低、低血磷、X型腿、骨痛、膝内翻膝外翻或髋内翻、新生儿低血磷、维生素D缺乏、牙痛、婴儿枕秃

The pathology of disease

Familial hypophosphatemic rickets (X-linked hypophosphatemia) is renal phosphate wasting; rickets; short stature; children; phosphate + active vitamin D; pediatric endocrinology/genetics.

Symptoms

Rickets; bowlegs; short stature; child; low phosphate; family; X-linked

Causes

PHEX mutation; X-linked dominant; renal phosphate wasting; XLH.

Treatment

Phosphate supplementation; active vitamin D; burosumab selected; pediatric endocrinology/genetics

Dept

Pediatric endocrinology / endocrinology / genetics / pediatric orthopedics.

Warm reminder: Health education reference only; seek care at regular hospital.