Title : Wolman disease successfully treated by bone marrow transplantation - Krivit_2000_Bone.Marrow.Transplant_26_567 |
Author(s) : Krivit W , Peters C , Dusenbery K , Ben-Yoseph Y , Ramsay NK , Wagner JE , Anderson R |
Ref : Bone Marrow Transplant , 26 :567 , 2000 |
Abstract :
Wolman disease is characterized by severe diarrhea and malnutrition leading to death during infancy. Lysosomal acid lipase deficiency is the cause of the symptoms and signs. It is inherited in an autosomal recessive manner. All Wolman disease patients have adrenal gland calcification. Previous therapeutic attempts have failed to provide remission. We report successful long-term bone marrow engraftment in a patient with Wolman disease resulting in continued normalization of peripheral leukocyte lysosomal acid lipase enzyme activity. Diarrhea is no longer present. Now, at 4 years of age, this patient is gaining developmental milestones. Cholesterol and triglyceride levels are normal. Liver function is normal. This is the first long-term continued remission reported for Wolman disease. |
PubMedSearch : Krivit_2000_Bone.Marrow.Transplant_26_567 |
PubMedID: 11019848 |
Gene_locus related to this paper: human-LIPA |
Mutation | W116X_human-LIPA |
Gene_locus | human-LIPA |
Disease | Wolman disease WD, Cholesterol Ester Storage Disease, CESD |
Krivit W, Peters C, Dusenbery K, Ben-Yoseph Y, Ramsay NK, Wagner JE, Anderson R (2000)
Wolman disease successfully treated by bone marrow transplantation
Bone Marrow Transplant
26 :567
Krivit W, Peters C, Dusenbery K, Ben-Yoseph Y, Ramsay NK, Wagner JE, Anderson R (2000)
Bone Marrow Transplant
26 :567