The DOI matches its Crossref record; 32 of the 32 references it cites were found in a registry or an index.
The Natural Course of Infantile Pompe’s Disease: 20 Original Cases Compared With 133 Cases From the Literature
Open accessAbstract
Objective. Infantile Pompe’s disease is a lethal cardiac and muscular disorder. Current developments toward enzyme replacement therapy are promising. The aim of our study is to delineate the natural course of the disease to verify endpoints of clinical studies. Methods. A total of 20 infantile patients diagnosed by the collaborative Dutch centers and 133 cases reported in literature were included in the study. Information on clinical history, physical examination, and diagnostic parameters was collected. Results. The course of Pompe’s disease is essentially the same in the Dutch and the general patient population. Symptoms start at a median age of 1.6 months in both groups. The median age of death is 7.7 and 6 months, respectively. Five percent of the Dutch patients and 8% of all reported patients survive beyond 1 year of age. Only 2 patients from literature became older than 18 months. A progressive cardiac hypertrophy is characteristic for infantile Pompe’s disease. The diastolic thickness of the left ventricular posterior wall and cardiac weight at autopsy increase significantly with age. Motor development is severely delayed and major developmental milestones are generally not achieved. For the Dutch patient group, growth deviates significantly from normal despite start of nasogastric tube feeding. Levels of aspartate aminotransferase, alanine aminotransferase, lactate dehydrogenase, creatine kinase, or creatine kinase-myocardial band isoenzyme are typically elevated, although aspartate aminotransferase, alanine aminotransferase, and lactate dehydrogenase increase significantly with age. The patients have fully deleterious mutations. Acid α-glucosidase activity is severely deficient. Conclusions. Survival, decrease of the diastolic thickness of the left ventricular posterior wall, and achievement of major motor milestones are valid endpoints for therapeutic studies of infantile Pompe’s disease. Mutation analysis and measurement of the α-glucosidase activity should be part of the enrollment program.
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Cites
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Critical review of the literature
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Self-citationThe spectrum and diagnosis of acid maltase deficiency
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2023 ESC guidelines for the management of cardiomyopathies
Arbelo, E., Protonotarios, A., Gimeno, J. R., Arbustini, E., Barriales-Villa, R., Basso, C., Bezzina, C. R., Biagini, E., Blom, N. A., de Boer, R. A., et al. (2023) · European Heart Journal · doi:10.1093/eurheartj/ehad194 · Cited by 2,844
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Pompe disease diagnosis and management guideline
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Long-Term Intravenous Treatment of Pompe Disease With Recombinant Human α-Glucosidase From Milk
Van den Hout, J. M. P., Kamphoven, J. H. J., Winkel, L. P. F., Arts, W. F. M., Klerk, J. B. C. D., Loonen, M. C. B., Vulto, A. G., Cromme-Dijkhuis, A., Weisglas-Kuperus, N., Hop, W., et al. (2004) · Pediatrics · doi:10.1542/peds.113.5.e448 · Cited by 355
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Metadata
- Authors
- van den Hout, H. M. P., Hop, W., van Diggelen, O. P., Smeitink, J. A. M., Smit, G. P. A., Poll-The, B.-T. T., Bakker, H. D., Loonen, M. C. B., de Klerk, J. B. C., Reuser, A. J. J., & van der Ploeg, A. T.
- Venue
- Pediatrics
- Publisher
- American Academy of Pediatrics (AAP)
- Published
- 2003-08-01
- Volume
- 112
- Issue
- 2
- Pages
- 332-340
- ISSN
- 0031-4005 (ISSN-L)
- 1098-4275
- OpenAlex
- W2144392873
- Cited by
- 555
- References
- 32
- FWCI
- 8.50
- Type
- journal article
- Language
- en
- Open access
- green
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- van den Hout, H. M. P., Hop, W., van Diggelen, O. P., Smeitink, J. A. M., Smit, G. P. A., Poll-The, B.-T. T., Bakker, H. D., Loonen, M. C. B., de Klerk, J. B. C., Reuser, A. J. J., & van der Ploeg, A. T. (2003). The Natural Course of Infantile Pompe’s Disease: 20 Original Cases Compared With 133 Cases From the Literature. Pediatrics. https://doi.org/10.1542/peds.112.2.332
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