Spreng G, Färber D, Pontz B F
Kinderklinik und Poliklinik, Technische Universität München.
Monatsschr Kinderheilkd. 1993 Mar;141(3):214-8.
The autosomal recessive form of osteopetrosis becomes manifest in early infancy and often is lethal during the first decade of life. In an infant diagnosed at the age of eight weeks, a therapy with Calcitriol (Rocaltrol) was initiated with the intention to stimulate the osteoclast activity and to improve the bone marrow insufficiency. During therapy, a massive diarrhoea has been observed as potential and previously undescribed side effect of Calcitriol. Therefore the therapy had to be discontinued. A simultaneous trial with Ca-depleted diet did not show any effect. In the absence of a suitable donor, a bone-marrow transplantation could not be performed. The patient died at the age of five month.
常染色体隐性遗传型骨硬化症在婴儿早期发病,常在生命的第一个十年内致命。一名8周龄被诊断出患有该病的婴儿开始接受骨化三醇(罗钙全)治疗,目的是刺激破骨细胞活性并改善骨髓功能不全。在治疗期间,观察到严重腹泻这一骨化三醇潜在的、以前未描述过的副作用。因此,治疗不得不中断。同时进行的低钙饮食试验未显示任何效果。由于没有合适的供体,无法进行骨髓移植。该患者在5个月大时死亡。