Childhood Pompe disease: clinical spectrum and genotype in 31 patients

Autor: C. I. van Capelle, Jaak Jaeken, M. Baethmann, M. E. Rubio-Gozalbo, J. M. P. van den Hout, Eugen Mengel, J. C. van der Meijden, Helen Michelakakis, Robin H. Lachmann, Marian A. Kroos, Michèl A.A.P. Willemsen, Terry G J Derks, A.T. van der Ploeg, Thomas Voit, J. C. de Jongste, Arnold J. J. Reuser
Přispěvatelé: Pediatrics, Clinical Genetics, RS: GROW - R4 - Reproductive and Perinatal Medicine, Kindergeneeskunde, MUMC+: MA Medische Staf Kindergeneeskunde (9), Center for Liver, Digestive and Metabolic Diseases (CLDM)
Rok vydání: 2016
Předmět:
0301 basic medicine
Male
Pediatrics
Supine position
CHILDREN
Clinical spectrum
Pulmonary function testing
0302 clinical medicine
Genetics(clinical)
Pharmacology (medical)
10. No inequality
Child
MUTATION
Genetics (clinical)
Medicine(all)
Glycogen Storage Disease Type II
Pompe disease
General Medicine
Enzyme replacement therapy
Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3]
3. Good health
ACID MALTASE DEFICIENCY
Child
Preschool
Female
medicine.symptom
Weakness
medicine.medical_specialty
Adolescent
Genotype
Scoliosis
Motor Activity
Asymptomatic
Diagnosis
Differential
03 medical and health sciences
medicine
INFANTILE
Humans
GAA GENE
Natural course
business.industry
Research
Infant
alpha-Glucosidases
ADULTS
medicine.disease
Childhood
MUSCULAR-DYSTROPHY
REFERENCE VALUES
030104 developmental biology
Cross-Sectional Studies
Disease Presentation
Differential diagnosis
business
FOLLOW-UP
030217 neurology & neurosurgery
Zdroj: Orphanet Journal of Rare Diseases, 11. BioMed Central Ltd.
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, 11:65. BioMed Central Ltd
Orphanet Journal of Rare Diseases, 11, 1, pp. 65
Orphanet Journal of Rare Diseases, 11, 65
Orphanet journal of rare diseases, 11(1):65. BMC
ISSN: 1750-1172
Popis: Contains fulltext : 167647.pdf (Publisher’s version ) (Open Access) BACKGROUND: As little information is available on children with non-classic presentations of Pompe disease, we wished to gain knowledge of specific clinical characteristics and genotypes. We included all patients younger than 18 years, who had been evaluated at the Pompe Center in Rotterdam, the Netherlands, between 1975 and 2012, excluding those with the classic-infantile form. None were treated with enzyme replacement therapy at the time of evaluation. We collected information on first symptoms, diagnosis, use of a wheelchair and/or respirator, and enzyme and mutation analysis and assessed muscle strength, pulmonary function, and cardiac parameters. RESULTS: Thirty-one patients participated. Median age at symptom onset was 2.6 years (range 0.5-13y) and at diagnosis 4.0 years. Most first problems were delayed motor development and problems related to limb-girdle weakness. Fatigue, persistent diarrhea and problems in raising the head in supine position were other first complaints. Ten patients were asymptomatic at time of diagnosis. Five of them developed symptoms before inclusion in this study. Over 50 % of all patients had low or absent reflexes, a myopathic face, and scoliosis; 29 % were underweight. Muscle strength of the neck flexors, hip extensors, hip flexors, and shoulder abductors were most frequently reduced. Pulmonary function was decreased in over 48 % of the patients; 2 patients had cardiac hypertrophy. Patients with mutations other than the c.-32-13T > G were overall more severely affected, while 18 out of the 21 patients (86 %) with the c.-32-13T > G/'null' genotype were male. CONCLUSIONS: Our study shows that Pompe disease can present with severe mobility and respiratory problems during childhood. Pompe disease should be considered in the differential diagnosis of children with less familiar signs such as disproportional weakness of the neck flexors, unexplained fatigue, persistent diarrhea and unexplained high CK/ASAT/ALAT. Disease presentation appears to be different from adult patients. The majority of affected children with GAA genotype c.-32-13T > G/'null' appeared to be male.
Databáze: OpenAIRE
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