XXXX : pediatric concerns.

@entity2315 @entity382 @entity1 @entity851 @entity417 @entity882 @entity10727 @entity16 @entity74 @entity1120 @entity6118 @entity10726 @entity158
@entity1120 , the most prevalent @entity2315 , is inherited as an @entity74 . The gold standard for diagnosis is decreased acid beta-glucosidase activity in the lymphocytes or fibroblasts; molecular analysis of mutations allows for some prognostication of disease severity. Prenatal diagnosis and carrier testing for at-risk families are currently available. There is tremendous phenotypic heterogeneity in the non-neuronopathic form (type I), ranging from clinically asymptomatic to massive @entity382 , @entity6118 , @entity851 in @entity1 and extensive involvement of bone and lungs. Presence on one allele of the most common mutation, @entity10727 , which is the most prevalent among Ashkenazi Jews for whom there is a predilection for @entity1120 , is protective of neurological involvement. Some mutations, such as 84GG and IVS2+1, are associated with more severe disease manifestations when appearing as compound heterozygotes with @entity10727 , but when occurring in the homozygous state are not compatible with life. Other mutations, such as @entity10726 , are associated with severe @entity16 when occurring as compound heterozygotes with @entity10727 , but when occurring in the homozygous state may be predictive of @entity16 of either acute (type II) or subacute (type III) forms. In the past decade, enzyme replacement therapy has become available which has resulted in a reduction in liver and spleen volume and consequently improved @entity417 and @entity882 in most @entity1 . It has also engendered catch-up growth in many @entity1 , induced improvement in lung involvement secondary to @entity1120 , and to some extent ameliorated episodes of @entity158 . By virtue of treatment, many @entity1 who may have been severely affected no longer need to undergo splenectomy to treat @entity6118 , and therefore they are not at risk of bone involvement consequent to the loss of the preferred reservoir for lipid-laden 'Gaucher cells'. However, enzyme treatment is ineffective in reversing neurological signs, requires a lifelong commitment to intravenous infusions, thereby reducing quality of life, and is relatively expensive for many national health schemes. Hence, alternative forms of treatment, such as substrate balance, are being explored. Symptomatic management, including orthopedic surgery, @entity158 relief for @entity158 and even splenectomy, still has importance for @entity1 with @entity1120 . In addition, there is the potential for bone marrow transplantation and, in the future, gene therapy to be curative, particularly for @entity1 with the neuronopathic forms.
