González de Dios J, Fernández Tejada E, Díaz Fernández M C, Ortega Páez E, Hernández González J, de la Vega Bueno A, Hierro Llanillo L, Larrauri Martínez J, Jara Vega P
Unidad de Hepatología, Hospital Infantil La Paz, Madrid.
An Esp Pediatr. 1990 Feb;32(2):143-8.
Six pediatric patients with Niemann-Pick disease are reported. They have been studied at Hepatology Unit HI "La Paz" (Madrid) in the period of time between 1975-1988. They are one case of type A, one case of type B and four cases of type C. This group of pediatric patients serve us to make a revision of the disease attending to clinical and biochemical classification aspects, diagnosis and treatment. We insist on two aspects: 1) greater importance of enzymatic diagnose for the "Niemann-Pick complex", in view of the overlapping of clinical symptoms, 2) bone-marrow transplantation as therapeutic alternative and its indications.
本文报告了6例尼曼-匹克病患儿。1975年至1988年期间,他们在马德里“拉巴斯”医院肝病科接受了研究。其中1例为A型,1例为B型,4例为C型。这组儿科患者有助于我们从临床和生化分类、诊断及治疗方面对该病进行回顾。我们强调两个方面:1)鉴于临床症状重叠,酶学诊断对“尼曼-匹克综合征”更为重要;2)骨髓移植作为一种治疗选择及其适应证。