Glucose-6-Phosphatase Deficiency Follow-up

Updated: Jan 03, 2012
  • Author: Lawrence C Wolfe, MD; Chief Editor: George T Griffing, MD  more...
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Follow-up

Further Outpatient Care

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  • Frequent follow-up is required after diagnosis and management therapy. This helps ensure that the goal of 24-hour euglycemia with normalization of lactate and acidosis is being met.

  • Once a patient is on a stable dietary regimen, follow-up may be less frequent but not less than every 6 months.

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Further Inpatient Care

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  • Immediately after diagnosis, the family must receive as much information as possible about the rationale and goals of dietary therapy.

  • Parents should feel comfortable with the diet plan and how it will be administered.

  • They also must become familiar with the operation of the overnight feeding pump.

  • Importantly, give instructions on detecting and emergently treating hypoglycemia.

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Inpatient & Outpatient Medications

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  • Gemfibrozil may be considered for hypertriglyceridemia that is unresponsive to dietary therapy.

  • Allopurinol helps control hyperuricemia.

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Transfer

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  • A multidisciplinary team experienced with inborn errors of metabolism should handle the initial diagnosis.

  • Hypertriglyceridemic pancreatitis, especially if severe or unstable, requires transfer to an appropriate care facility.

  • Large, symptomatic, or worrisome hepatic masses with or without hemorrhage may warrant transfer to a center with a liver transplant program.

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Deterrence/Prevention

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  • Given the complexity of management, use of a patient flow chart is advisable to keep track of the multiple variables and indices of treatment. These include the following:

    • Height

    • Weight

    • Growth velocity

    • Pubertal stage

    • Blood glucose

    • Lactate

    • Urate

  • The patient should purchase and use a home glucometer to regularly document glycemic control, especially if symptomatic from hypoglycemia.

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Complications

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  • Numerous tests must be performed periodically to screen and monitor for the progression of any complications. These should be part of the flow sheet and include the following:

    • Cholesterol and triglyceride levels

    • Liver enzyme values

    • Creatinine level

    • Creatinine clearance rate

    • Twenty-four – hour urinary protein measurements

    • Alpha-fetoprotein level

    • Bone age determination

    • Abdominal ultrasonographic examination

    • Bone density measurements

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Prognosis

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  • Prognosis is strongly related to early diagnosis and good life-long compliance with appropriately prescribed and monitored diet therapy.

  • Screening for complications may be useful in some cases, but no long-term clinical trials have investigated most nondietary interventions.

  • As patients with this disorder live longer, understanding the long-term natural history and better assessing prognosis will become possible.

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Patient Education

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  • Recognition and emergency treatment of hypoglycemia

  • Rationale and mechanics of diet therapy (eg, continuous 24-h glucose supply)

  • Importance of adhering to dietary therapy to attain normal growth and development

  • Importance of regular follow-up to allow frequent reassessment of dietary needs and screening for complications

  • Avoiding pharmacologic estrogen preparations, especially in the presence of liver tumors

  • Importance of tight supervision and good metabolic control for any pregnancy

  • Risks related to having another affected child

  • For excellent patient education resources, visit eMedicineHealth's Cholesterol Center. Also, see eMedicineHealth's patient education articles High Cholesterol, Cholesterol FAQs, and Atorvastatin (Lipitor).

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