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Journal of Inherited Metabolic Disease

, Volume 40, Issue 5, pp 703–708 | Cite as

Tight metabolic control plus ACE inhibitor therapy improves GSD I nephropathy

  • Gyongyi O. Okechuku
  • Lawrence R. Shoemaker
  • Monika Dambska
  • Laurie M. Brown
  • Justin Mathew
  • David A. Weinstein
Original Article

Abstract

The onset of microalbuminuria (MA) heralds the onset of glomerulopathy in patients with glycogen storage disease (GSD) type I. Unlike tubulopathy, which responds to improved metabolic control, glomerulopathy in GSD I is considered refractory to medical intervention, and it is thought to inexorably progress to overt proteinuria and renal failure. Recent reports of reduced microalbuminuria following strict adherence to therapy counter this view. In contrast to type Ia, little is known regarding the prevalence of kidney disease in GSD Ib, 0, III, VI, and IX. Subjects were evaluated with 24-h urine collections between 2005 and 2014 as part of a longitudinal study of the natural history of GSD. ACE inhibitor therapy (AIT) was commenced after documentation of microalbuminuria. Elevated urine albumin excretion was detected in 23 of 195 GSD Ia patients (11.7%) and six of 45 GSD Ib (13.3%). The median age of onset of microalbuminuria in GSD Ia was 24 years (range 9–56); in GSD Ib it was 25 years (range 20–38). Of 14 with GSD Ia who complied with dietary and AIT during the study period, microalbuminuria decreased in 11, in whom metabolic control improved. All 135 patients with the ketotic forms of GSD (0, III, VI and IX) consistently had normal microalbumin excretion. Strict adherence to dietary therapy and maintenance of optimal metabolic control is necessary to halt the progression of GSD Ia glomerulopathy in patients treated with AIT. With optimal care, protein excretion can be reduced and even normalize.

Abbreviations

ACE

Angiotensin converting enzyme

AIT

ACE inhibitor therapy

GSD

Glycogen storage disease

MA

Microalbuminuria

Notes

Compliance with ethical standards

Conflict of interest

G. O. Okechuku, L. R. Shoemaker, M. Dambska, L. M. Brown, J. Mathew and D. A. Weinstein declare that they have no conflict of interest.

Funding

This research was made possible by philanthropic support provided by the Global Center for GSD and the following funds managed through the University of Florida Office of Development: Scott Miller GSD Program Fund, the GSD Dream Fund, and the Johnny Damon Fund. The work was also supported in part by the NIH/NCATS Clinical and Translational Science Award UL1 TR000064 granted to the University of Florida.

Ethical approval

These investigations were approved by the IRB at the University of Florida, and they were carried out in accordance with the Declaration of Helsinki.

Informed consent

Consent (and assent when appropriate) was obtained from all participants.

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Copyright information

© SSIEM 2017

Authors and Affiliations

  • Gyongyi O. Okechuku
    • 1
  • Lawrence R. Shoemaker
    • 1
  • Monika Dambska
    • 2
    • 3
  • Laurie M. Brown
    • 2
  • Justin Mathew
    • 2
  • David A. Weinstein
    • 2
    • 3
    • 4
  1. 1.Division of Pediatric NephrologyUniversity of FloridaGainesvilleUSA
  2. 2.Glycogen Storage Disease ProgramUniversity of FloridaGainesvilleUSA
  3. 3.Glycogen Storage Disease ProgramConnecticut Children’s Medical CenterHartfordUSA
  4. 4.Glycogen Storage Disease ProgramUniversity of Connecticut School of MedicineFarmingtonUSA

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