Gaucher disease: scoring system
In addition to the clinical classification of Gaucher disease into types 1, 2, and 3, various scoring systems for Gaucher disease have been published. A major aim of these systems is to allow assessment of the effects of treatment (e.g., the effect of enzyme replacement therapy on specific aspects of the disease, or on the appearance of the skeleton in magnetic resonance imaging, or on the blood count).[42]Maas M, Hangartner T, Mariani G, et al. Recommendations for the assessment and monitoring of skeletal manifestations in children with Gaucher disease. Skeletal Radiol. 2008 Mar;37(3):185-8.
http://link.springer.com/article/10.1007/s00256-007-0425-0/fulltext.html
http://www.ncbi.nlm.nih.gov/pubmed/18094966?tool=bestpractice.com
[87]Di Rocco M, Giona F, Carubbi F, et al. A new severity score index for phenotypic classification and evaluation of responses to treatment in type 1 Gaucher disease. Haematologica. 2008 Aug;93(8):1211-8.
http://www.haematologica.org/content/93/8/1211
http://www.ncbi.nlm.nih.gov/pubmed/18603565?tool=bestpractice.com
[88]Zimran A, Elstein D, Kannai R, et al. Low-dose enzyme replacement therapy for Gaucher's disease: effects of age, sex, genotype, and clinical features on response to treatment. Am J Med. 1994 Jul;97(1):3-13.
http://www.ncbi.nlm.nih.gov/pubmed/8030654?tool=bestpractice.com
Fabry disease: Mainz score
Scoring systems for Fabry disease allow assessment of the severity of multisystem (general, neurologic, cardiovascular, and renal) involvement in individual patients.[89]Whybra C, Kampmann C, Krummenauer F, et al. The Mainz Severity Score Index: a new instrument for quantifying the Anderson-Fabry disease phenotype, and the response of patients to enzyme replacement therapy. Clin Genet. 2004 Apr;65(4):299-307.
http://www.ncbi.nlm.nih.gov/pubmed/15025723?tool=bestpractice.com
Other lysosomal storage disease (LSD) scoring systems
Examples of other scoring systems in LSDs that have been prompted by treatment advances include a system in infantile Krabbe disease for predicting outcome after cord blood transplantation.[90]Escolar ML, Poe MD, Martin HR, et al. A staging system for infantile Krabbe disease to predict outcome after unrelated umbilical cord blood transplantation. Pediatrics. 2006 Sep;118(3):e879-89.
http://www.ncbi.nlm.nih.gov/pubmed/16923928?tool=bestpractice.com