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Kidney Week

Abstract: SA-PO656

Early Intervention with Angiotensin Blockade to Reverse Proteinuria in Glycogen Storage Disease Type Ia (GSD Ia)

Session Information

Category: Genetic Diseases of the Kidneys

  • 1202 Genetic Diseases of the Kidneys: Non-Cystic

Authors

  • Yang, Feng-Jung, National Taiwan University Hospital, Taipei, Taiwan
  • Chien, Yin-Hsiu, National Taiwan University Hospital, Taipei, Taiwan
Introduction

Glycogen storage disease type Ia (GSD Ia) is caused by a deficiency in glucose-6-phosphatase (G6Pase) activity. This enzyme deficiency affects not only the liver but also the kidneys. In adolescents with GSD Ia, "silent" glomerular hyperfiltration commonly develops, progressing to microalbuminuria and, eventually, overt proteinuria. The progression to decreased glomerular filtration rate (GFR) is attributed to focal segmental glomerulosclerosis and interstitial fibrosis. Angiotensin blockade has long been employed to reduce proteinuria and slow GFR decline in renal diseases characterized by hyperfiltration injury, such as diabetes mellitus. Emerging evidence suggests that similar therapeutic benefits are observed in GSD Ia patients, with angiotensin blockade improving glomerular hyperfiltration and temporarily restoring normal GFR rates.

Case Description

Between January 2002 and July 2024, we retrospectively reviewed the clinical profiles and renal outcomes of patients diagnosed with GSD Ia at National Taiwan University Hospital. Thirteen patients were included in our study, four of whom had a history of proteinuria. Among these, two patients experienced complete resolution of proteinuria following treatment with angiotensin receptor blockers (ARBs). One patient, treated with ARBs showed a reduction in proteinuria but subsequently developed acute renal failure, which resolved after discontinuing Diovan. Only one patient experienced a rapid decline in renal function, ultimately requiring dialysis and receiving a renal transplant one year later.

Discussion

Angiotensin blockade appears to decelerate the progression of GFR loss in patients with GSD Ia once it commences. Although systematic studies on angiotensin blockade in GSD Ia are lacking, early intervention upon the onset of persistent microalbuminuria holds potential as a strategy to mitigate the factors leading to accelerated glomerular obsolescence, microalbuminuria, proteinuria, and renal insufficiency. Given the generally favorable tolerance of these agents and the likelihood of their eventual use in the lifelong management of GSD Ia, early initiation of angiotensin blockade presents minimal risk and may alter the natural progression of GSD-associated nephropathy. Therefore, early administration of ARBs should be considered to optimize renal outcomes in GSD Ia patients.