Glycogen storage disease type I
ICD-10 E74.0 · ICD-11 5C51.3.6

Treatment of Glycogen Storage Disease Type I in Chronic Kidney Disease with Haemoglobin Below 10 g/dL

In patients with Glycogen storage disease type I (GSD I), chronic kidney disease is a recognised complication that can be accompanied by anaemia. When haemoglobin falls below 10 g/dL in this setting, a specific, protocol-driven management step is indicated.

Clinical Scenario
Chronic kidney disease Hb < 10 g/dL

This protocol addresses GSD I patients with concurrent chronic kidney disease whose haemoglobin has dropped below 10 g/dL. The coexistence of these two conditions defines the threshold at which active haemoglobin management is required.

Therapeutic Approach

Management centres on erythropoietin (EPO) therapy to address anaemia in the context of chronic kidney disease. A pre-treatment assessment — including evaluation for iron deficiency — is part of the protocol before EPO is initiated. The complete sequencing, titration approach, and monitoring guidance are in the full protocol.

Clinical Target

The defined goal is to maintain haemoglobin levels between 10 and 12 g/dL. The full protocol specifies how that target is tracked and maintained over time.

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References

DOI: 10.1038/gim.2014.128

Accordingly, when hemoglobin decreases to less than 10 g/dl, EPO therapy is initiated and titrated to maintain levels between 10 and 12 g/dl.

Because iron deficiency anemia is common in GSD I, it is prudent to screen both children and adults with chronic renal failure for iron deficiency anemia and replace iron as needed before starting EPO therapy.

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