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Clinical and Molecular Disease Spectrum and Outcomes in Patients with Infantile-Onset Pompe Disease.

Publication ,  Journal Article
Gupta, N; Kazi, ZB; Nampoothiri, S; Jagdeesh, S; Kabra, M; Puri, RD; Muranjan, M; Kalaivani, M; Rehder, C; Bali, D; Verma, IC; Kishnani, PS
Published in: J Pediatr
January 2020

OBJECTIVES: To evaluate the clinical and molecular spectrum, and factors affecting clinical outcome of patients in India diagnosed with infantile-onset Pompe disease (IOPD). STUDY DESIGN: In this multicenter, cross-sectional study, we evaluated the records of 77 patients with IOPD to analyze their clinical course, outcomes, and factors influencing the outcomes. RESULTS: Of the 77 patients with IOPD, phenotype data were available in 59; 46 (78%) had the classic phenotype. Overall, 58 of 77 (75%) and 19 of 77 (25%) patients were symptomatic before and after age 6 months, respectively. Alpha-glucosidase gene variant analysis available for 48 patients (96 alleles) showed missense variants in 49 alleles. Cross-reactive immunologic material (CRIM) status could be determined or predicted in 44 of 48 patients. In total, 32 of 44 patients (72%) were CRIM-positive, and 12 of 44 patients (27%) were CRIM-negative. Thirty-nine cases received enzyme-replacement therapy (ERT), alglucosidase alfa, and 38 patients never received ERT. Median age at initiation of ERT was 6.5 months. Response to ERT was better in babies who had CRIM-positive, non-classic IOPD. CONCLUSIONS: This study highlights the clinical spectrum of IOPD in India and provides an insight on various factors, such as undernutrition, feeding difficulties, and recurrent respiratory infection, as possible factors influencing clinical outcomes in these patients. The study also reiterates the importance of raising awareness among clinicians about the need for early diagnosis and timely treatment of IOPD.

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Published In

J Pediatr

DOI

EISSN

1097-6833

Publication Date

January 2020

Volume

216

Start / End Page

44 / 50.e5

Location

United States

Related Subject Headings

  • Treatment Outcome
  • Retrospective Studies
  • Phenotype
  • Pediatrics
  • Male
  • Infant, Newborn
  • Infant
  • India
  • Humans
  • Glycogen Storage Disease Type II
 

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Gupta, N., Kazi, Z. B., Nampoothiri, S., Jagdeesh, S., Kabra, M., Puri, R. D., … Kishnani, P. S. (2020). Clinical and Molecular Disease Spectrum and Outcomes in Patients with Infantile-Onset Pompe Disease. J Pediatr, 216, 44-50.e5. https://doi.org/10.1016/j.jpeds.2019.08.058
Gupta, Neerja, Zoheb B. Kazi, Sheela Nampoothiri, Sujatha Jagdeesh, Madhulika Kabra, Ratna Dua Puri, Mamta Muranjan, et al. “Clinical and Molecular Disease Spectrum and Outcomes in Patients with Infantile-Onset Pompe Disease.J Pediatr 216 (January 2020): 44-50.e5. https://doi.org/10.1016/j.jpeds.2019.08.058.
Gupta N, Kazi ZB, Nampoothiri S, Jagdeesh S, Kabra M, Puri RD, et al. Clinical and Molecular Disease Spectrum and Outcomes in Patients with Infantile-Onset Pompe Disease. J Pediatr. 2020 Jan;216:44-50.e5.
Gupta, Neerja, et al. “Clinical and Molecular Disease Spectrum and Outcomes in Patients with Infantile-Onset Pompe Disease.J Pediatr, vol. 216, Jan. 2020, pp. 44-50.e5. Pubmed, doi:10.1016/j.jpeds.2019.08.058.
Gupta N, Kazi ZB, Nampoothiri S, Jagdeesh S, Kabra M, Puri RD, Muranjan M, Kalaivani M, Rehder C, Bali D, Verma IC, Kishnani PS. Clinical and Molecular Disease Spectrum and Outcomes in Patients with Infantile-Onset Pompe Disease. J Pediatr. 2020 Jan;216:44-50.e5.
Journal cover image

Published In

J Pediatr

DOI

EISSN

1097-6833

Publication Date

January 2020

Volume

216

Start / End Page

44 / 50.e5

Location

United States

Related Subject Headings

  • Treatment Outcome
  • Retrospective Studies
  • Phenotype
  • Pediatrics
  • Male
  • Infant, Newborn
  • Infant
  • India
  • Humans
  • Glycogen Storage Disease Type II