Glycogen storage disease type I secondary prevention: Difference between revisions
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*There should be monitoring for development of liver adenomas vias liver imaging especially after the onset of puberty. | *There should be monitoring for development of liver adenomas vias liver imaging especially after the onset of puberty. | ||
*Adenomas are often multiple. In some situations, there is regression of adenomas noted with good metabolic control./otehr genetic factors can play a role in hepatic adenoma development. There is a risk for adenoma HCC transformation, especially when there is a rapid increase in size or number of adenomas, routine laboratory testing to include hepatic profile (serum glutamic | *Adenomas are often multiple. In some situations, there is regression of adenomas noted with good metabolic control./otehr genetic factors can play a role in hepatic adenoma development. There is a risk for adenoma HCC transformation, especially when there is a rapid increase in size or number of adenomas, routine laboratory testing to include hepatic profile (serum glutamic oxalacetic transaminase, serum glutamic pyruvic transaminase, albumin, bilirubin) should be performed every 6 months. In the setting of consideration of an LT, laboratory testing that includes serum creatinine and international normalized ratio (prothrombin time/partial thromboplastin time) tests, in addition to hepatic profile, should be performed every 6 months. | ||
*α-Fetoprotein and chorionic embryonic antigen levels are often normal, even in the setting of HCC, and do not predict hepatocellular adenoma to malignancy transformation. | *α-Fetoprotein and chorionic embryonic antigen levels are often normal, even in the setting of HCC, and do not predict hepatocellular adenoma to malignancy transformation. | ||
*Abdominal ultrasound is reasonable in the pediatric population. Abdominal imaging should be performed at baseline and every 12-24 months. | *Abdominal ultrasound is reasonable in the pediatric population. Abdominal imaging should be performed at baseline and every 12-24 months. | ||
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**Measurement of serum electrolytes, calcium, and phosphate; blood urea nitrogen and serum creatinine with calculation of estimated GFR. | **Measurement of serum electrolytes, calcium, and phosphate; blood urea nitrogen and serum creatinine with calculation of estimated GFR. | ||
*Consider initiating an ACE inhibitor or ARB with evidence of hyperfiltration (sustained estimated GFR >140ml/min/1.73 m<sup>2</sup>). | *Consider initiating an ACE inhibitor or ARB with evidence of hyperfiltration (sustained estimated GFR >140ml/min/1.73 m<sup>2</sup>). | ||
*Initiate an ACE inhibitor or ARB for persistent | *Initiate an ACE inhibitor or ARB for persistent microalbuminuria (>30ug albumin/mg creatinine). | ||
*Initiate an ACE inhibitor or ARB for frank proteinuria (>0.2 mg protein/mg creatinine). | *Initiate an ACE inhibitor or ARB for frank proteinuria (>0.2 mg protein/mg creatinine). | ||
*Initiate citrate supplementation for hypocitraturia, use of potassium citrate in patients with good renal function, accompanied by careful monitoring of electrolytes. Use of extreme caution in the setting of renal failure. | *Initiate citrate supplementation for hypocitraturia, use of potassium citrate in patients with good renal function, accompanied by careful monitoring of electrolytes. Use of extreme caution in the setting of renal failure. |
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
Overview
Secondary Prevention
Effective measures for secondary prevention of GSD type 1 include:[1]
- Blood glucose (BG) monitoring
- Prevent overtreatment
- Growth tracking
- General medical care recommendations
- Gastrointestinal or Nutritional recommendations
- Hepatic and hepatic transplantation recommendations
- Nephrology recommendations
- Hematology recommendations
- Cardiovascular recommendations
- Surgery/anesthesia recommendations
- Gynecological/obstetrical recommendations
Blood glucose (BG) monitoring
- Initial diet prescription is established on the basis of frequent BG monitoring. Afterwards, BG monitoring is done randomly to avoid asymptomatic hypoglycemia.
- Documentation of BG testing is done before each clinic visit to adjust diet, CS intake, and overnight gastric feedings (OGFs).
The following BG levels should be checked for 2–3 days before the clinic visit:
- Before meals
- Before cornstarch (CS) intake
- Before and after exercise
- If the cornstarch dose is changed, BG levels should be checked after 4 hours and then at hourly intervals to establish the duration of effectiveness. Effectiveness is measured by the duration of time for which the dose of CS will maintain the BG level >70 mg/dl.
Lactate meter
- The lactate meter is a portable device to measure lactate concentration.[2]
- Lactate concentrations are higher in patients with GSD type 1.
- The lactate meter may act as a good supplement to glucose monitoring, particularly during times of illness to help prevent acute deterioration, to avoid hospitalization, or to alert the caregivers about emergencies.
Continuous blood glucose monitoring system
- This is a method for monitoring and managing BG control in GSD patients.[3]
- This system may also help detect asymptomatic hypoglycemia.
Prevent overtreatment
- Parents should be educated to avoid overtreating patients.
- Overtreatment may result in complications including increased glycogen storage and over time may lead to hyperinsulinemia and insulin resistance.[4]
Growth tracking
- Growth should be tracked through parameters including:[1]
- Height
- Weight
- Weight/height ratio
- Body mass index
- Head circumference
- Changes in growth pattern is observed in poor metabolic control of GSD type 1.
General medical care recommendations |
|
Adopted from Genetics in medicine |
Gastrointestinal or Nutritional recommendations |
|
Adopted from Genetics in medicine |
Hepatic and hepatic transplantation recommendations |
|
Adopted from Genetics in medicine |
Nephrology recommendations |
|
Adopted from Genetics in medicine |
Hematology recommendations |
|
Adopted from Genetics in medicine |
Cardiovascular recommendations= |
|
Adopted from Genetics in medicine |
Surgery/anesthesia recommendations |
|
Adopted from Genetics in medicine |
Gynecological/obstetrical recommendations |
|
Adopted from Genetics in medicine |
References
- ↑ 1.0 1.1 Kishnani, Priya S.; Austin, Stephanie L.; Abdenur, Jose E.; Arn, Pamela; Bali, Deeksha S.; Boney, Anne; Chung, Wendy K.; Dagli, Aditi I.; Dale, David; Koeberl, Dwight; Somers, Michael J.; Burns Wechsler, Stephanie; Weinstein, David A.; Wolfsdorf, Joseph I.; Watson, Michael S. (2014). "Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics". Genetics in Medicine. doi:10.1038/gim.2014.128. ISSN 1098-3600.
- ↑ Saunders AC, Feldman HA, Correia CE, Weinstein DA (2005). "Clinical evaluation of a portable lactate meter in type I glycogen storage disease". J Inherit Metab Dis. 28 (5): 695–701. doi:10.1007/s10545-005-0090-1. PMID 16151900.
- ↑ White FJ, Jones SA (2011). "The use of continuous glucose monitoring in the practical management of glycogen storage disorders". J Inherit Metab Dis. 34 (3): 631–42. doi:10.1007/s10545-011-9335-3. PMID 21556835.
- ↑ Bhattacharya K (2011). "Dietary dilemmas in the management of glycogen storage disease type I." J Inherit Metab Dis. 34 (3): 621–9. doi:10.1007/s10545-011-9322-8. PMID 21491105.