Albeggiani A, Cataldo F
Helv Paediatr Acta. 1982;37(1):49-58.
The authors describe a patient with infantile form of hypophosphatasia who has presented a favourable course and is surviving at the age of 2 years, whereas usually the subjects affected by this disease show an unfavourable prognosis with death within the first 18 months of life. From the age of 5 to 10 months, the patient has been treated with weekly fresh plasma transfusions, with the purpose to supply the deficient enzyme. During treatment a progressive improvement of the clinical and radiological signs was observed. The authors hope that the study of other patients affected by this disease and treated with fresh plasma transfusions, might confirm the effectiveness of this substitutive therapy.
作者描述了一名患有婴儿型低磷酸酯酶症的患者，其病程良好，现已2岁存活，而通常受此病影响的患者预后不佳，会在生命的头18个月内死亡。从5到10个月大时，该患者接受了每周一次的新鲜血浆输血治疗，目的是补充缺乏的酶。治疗期间观察到临床和放射学体征逐渐改善。作者希望对其他患有此病并接受新鲜血浆输血治疗的患者进行研究，可能会证实这种替代疗法的有效性。
