医
China Med Service
Best doctors, yours
Breaking down language, channel and process barriers in cross-border care — making the best doctors your personal doctors.
300 Grade-A partner hospitals · 3,000+ leading experts · one-stop service across all specialties
肌性肌无力、骨痛、异常矮小、类戒断反应、维生素D中毒、碱性磷酸酶增高
Vitamin-D-dependent rickets (VDDR) is a group of inborn errors of vitamin-D activation/action. Type 1: 1-alpha-hydroxylase deficiency causing deficient calcitriol. Type 2: vitamin-D-receptor end-organ resistance. Clinical: rickets, hypocalcemia, seizures, growth failure despite normal dietary vitamin D/sun. Treatment: calcitriol (1,25-(OH)2 vitamin D) and calcium; type 2 is resistant and may require high-dose calcium.
Rickets; hypocalcemic seizures; growth failure; muscle weakness; alopecia (type 2)
Defective renal 1-alpha-hydroxylation or end-organ receptor resistance blocks active vitamin-D action, causing impaired calcium absorption and rickets.
Calcitriol replacement; calcium; high-dose calcium (type 2); supportive
Early recognition; genetic counseling; lifelong calcitriol.
It is recommended to visit the Pediatrics department; an appointment can be booked on this platform before the visit.
Warm reminder: The above information is for health science reference only and cannot replace professional medical diagnosis. If you have related symptoms, please seek medical attention at a regular hospital promptly.
|
