[The current state of Niemann-Pick disease: evaluation of six cases].
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.
Unidad de Hepatología, Hospital Infantil La Paz, Madrid.
J
J
González de Dios
E
E
Fernández Tejada
M C
MC
Díaz Fernández
E
E
Ortega Páez
J
J
Hernández González
A
A
de la Vega Bueno
L
L
Hierro Llanillo
J
J
Larrauri Martínez
P
P
Jara Vega
D001856:Bone Marrow Examination; D016026:Bone Marrow Transplantation; D002648:Child; D004796:Clinical Enzyme Tests; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008099:Liver / Q000473:pathology; D008297:Male; D009542:Niemann-Pick Diseases / Q000145:classification / Q000175:diagnosis* / Q000201:enzymology / Q000601:surgery
Estado actual de la enfermedad de Niemann-Pick: valoración de seis casos.