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Progressive development of renal cysts in glycogen storage disease type I

Monika Gjorgjieva1,2,3, Margaux Raffin1,2,3, Adeline Duchampt1,2,3

  • 1Institut National de la Santé et de la Recherche Médicale, U1213, Lyon, France.

Human Molecular Genetics
|July 21, 2016
PubMed

Insights

Glycogen storage disease type I (GSDI) causes kidney problems. Kidney-specific G6pc knockout mice developed cysts and renal failure, mirroring GSDI patient progression and highlighting imaging

Area of Science:

  • Biochemistry
  • Nephrology
  • Genetics

Background:

  • Glycogen storage disease type I (GSDI) is a rare metabolic disorder caused by glucose-6 phosphatase deficiency.
  • Patients with GSDI frequently develop chronic kidney disease, but the underlying mechanisms remain unclear.

Purpose of the Study:

  • To investigate the mechanisms of kidney disease progression in GSDI.
  • To establish a mouse model for studying GSDI nephropathy and its clinical manifestations.

Main Methods:

  • Generation of kidney-specific glucose-6 phosphatase knockout mice (K.G6pc-/-).
  • Longitudinal study of renal function and pathology in K.G6pc-/- mice over 18 months.
  • Clinical evaluation of GSDI patients for renal cysts and disease progression.

Main Results:

  • K.G6pc-/- mice showed progressive renal deterioration, including tubular dysfunction and glomerular barrier damage.
  • Development of tubular-glomerular fibrosis, podocyte injury, cysts, and renal failure in K.G6pc-/- mice after 15 months.
  • Detection of renal cysts in 7 out of 32 GSDI patients with advanced renal impairment, with 3 progressing to renal failure.

Conclusions:

  • GSDI-associated kidney pathology involves progressive tubular dysfunction and polycystic kidney development.
  • Polycystic kidney development in GSDI may lead to irreversible renal failure in later stages.
  • Kidney imaging for cyst development can aid in evaluating GSDI progression, complementing biochemical markers.

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