1. Growth charts for patients with Sanfilippo syndrome (Mucopolysaccharidosis type III)
- Author
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Daniel Pape, Laila Arash-Kaps, Nicole Muschol, Kai Kossow, Sandra Breyer, Julia B. Hennermann, Kurt Ullrich, and Ralf Stücker
- Subjects
0301 basic medicine ,Adult ,Male ,Pediatrics ,medicine.medical_specialty ,Adolescent ,Mucopolysaccharidosis ,Sanfilippo syndrome ,lcsh:Medicine ,Mucopolysaccharidosis type III ,030105 genetics & heredity ,Head circumference ,Short stature ,03 medical and health sciences ,Mucopolysaccharidosis III ,Young Adult ,0302 clinical medicine ,medicine ,Dementia ,Humans ,Pharmacology (medical) ,Growth Charts ,Child ,Genetics (clinical) ,Body mass index ,Retrospective Studies ,Growth velocity ,Physical Maturity ,business.industry ,Research ,lcsh:R ,Puberty ,Body Weight ,General Medicine ,medicine.disease ,Weight ,Body Height ,Child, Preschool ,Cohort ,Female ,medicine.symptom ,business ,030217 neurology & neurosurgery - Abstract
Background Mucopolysaccharidosis (MPS) type III (Sanfilippo syndrome) comprises a group of rare, lysosomal storage diseases caused by the deficiency of one of four enzymes involved in the degradation of heparan sulfate. The clinical hallmark of the disease is severe neurological deterioration leading to dementia and death in the second decade of life. Adult MPS patients are generally of short stature. To date there is no clear description of the physical development of MPS III patients. The aim of this study was to document growth reference data for MPS III patients. We collected growth data of 182 German MPS III patients and were able to develop growth charts for this cohort. Growth curves for height, weight, head circumference, and body mass index were calculated and compared to German reference charts. Results Birth height, weight and head circumference were within the physiological ranges. Both genders were significantly taller than healthy children at 2 years of age, while only male patients were taller at the age of four. Growth velocity decelerated after the ages of 4.5 and 5 years for female and male patients, respectively. Both genders were significantly shorter than the reference group at the age of 17.5 years. Head circumference was larger compared to healthy matched controls within the first 2 years of life and remained enlarged until physical maturity. Conclusion MPS III is a not yet treatable severe neuro-degenerative disease, developing new therapeutic strategies might change the course of the disease significantly. The present charts contribute to the understanding of the natural history of MPS III. Specific growth charts represent an important tool for families and physicians as the expected height at physical maturity can be estimated and therapeutic effects can be monitored. Electronic supplementary material The online version of this article (10.1186/s13023-019-1065-x) contains supplementary material, which is available to authorized users.
- Published
- 2019