Glycogen storage disease type I secondary prevention: Difference between revisions
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* Hematology recommendations | * Hematology recommendations | ||
* Cardiovascular recommendations | * Cardiovascular recommendations | ||
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* Gynecological/obstetrical recommendations | |||
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*Screen for pulmonary hypertension by periodic echocardiography with attention to estimating right-ventricular pressure by tricuspid regurgitation jet starting at age 10 years and repeating every 3 years or at shorter intervals if there are suggestive clinical symptoms. | *Screen for pulmonary hypertension by periodic echocardiography with attention to estimating right-ventricular pressure by tricuspid regurgitation jet starting at age 10 years and repeating every 3 years or at shorter intervals if there are suggestive clinical symptoms. | ||
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| style="background:#DCDCDC; + |<small>'''Adopted from[https://www.nature.com/gim/journal/vaop/ncurrent/full/gim2014128a.html#bx2| Genetics in medicine]'''</small><ref name="urlGastrointestinal/nutrition recommendations : Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics : Genetics in Medicine : Springer Nature">{{cite web |url=https://www.nature.com/gim/journal/vaop/ncurrent/fig_tab/gim2014128b2.html |title=Gastrointestinal/nutrition recommendations : Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics : Genetics in Medicine : Springer Nature |format= |work= |accessdate=}}</ref><ref name="urlHepatic and hepatic transplant recommendations : Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics : Genetics in Medicine : Springer Nature">{{cite web |url=https://www.nature.com/gim/journal/vaop/ncurrent/fig_tab/gim2014128b3.html |title=Hepatic and hepatic transplant recommendations : Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics : Genetics in Medicine : Springer Nature |format= |work= |accessdate=}}</ref><ref name="urlimages.nature.com">{{cite web |url=https://images.nature.com/lw300/nature-assets/gim/journal/v16/n11/images/gim2014128i4.jpeg |title=images.nature.com |format= |work= |accessdate=}}</ref><ref name="urlimages.nature.com">{{cite web |url=https://images.nature.com/lw300/nature-assets/gim/journal/v16/n11/images/gim2014128i5.jpeg |title=images.nature.com |format= |work= |accessdate=}}</ref><ref name="urlimages.nature.com">{{cite web |url=https://images.nature.com/lw300/nature-assets/gim/journal/v16/n11/images/gim2014128i6.jpeg |title=images.nature.com |format= |work= |accessdate=}}</ref><ref name="urlimages.nature.com">{{cite web |url=https://images.nature.com/lw300/nature-assets/gim/journal/v16/n11/images/gim2014128i7.jpeg |title=images.nature.com |format= |work= |accessdate=}}</ref> | | | ||
===Surgery/anesthesia recommendations=== | |||
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*Educate parents about symptoms of hypoglycemia and metabolic decompensation. | |||
*Enable parents to provide oral or NG glucose during minor ailments. | |||
*Parents should be provided ana emergency treatment plan. | |||
*Careful management of the patient's glucose and electrolytes during surgery is necessary. | |||
*Admission 24h before surgical procedure allows for i.v. fluids with D10 and metabolic control. | |||
*Lactated Ringer's solution should not be used because of the risk of worsening lactic acidosis and metabolic decompensation. | |||
*Intravenous glucose-containing fluids or nutrition (total parenteral nutririon is indicated) should not eb discontinued abruptly; this should be performed only after the patient is eating and maintaining blood glucose levels. | |||
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===Gynecological/obstetrical recommendations=== | |||
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*Avoidance of estrogen as na oral contraceptive, because of increased risk for adenoma formation, is recommended. For GSD type 1b, avoidence of an aIUD because of increased infection risk is recommended. | |||
**Progestin-only contraceptives may be considered. There is a risk for reduced bone mineral density, which needs to be monitored. | |||
*Evaluate for menorrhagia and refer as appropriate. | |||
*Plan for preganancy so that metabolic parameters maya be monitored and normalized in preparation for preganancy. | |||
*Medications such as ACE inhibitors, allopurinol, and lipid-lowering drugs much e discontinued during preganacy. | |||
*BG levels and overall metabolic control (including renal status) should be monitored during preganancy and labor to maintain euglycemia. | |||
*Pregnancies should be followed by a high-risk OB in a tertiary setting. | |||
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| style="background:#DCDCDC; + |<small>'''Adopted from[https://www.nature.com/gim/journal/vaop/ncurrent/full/gim2014128a.html#bx2| Genetics in medicine]'''</small><ref name="urlGastrointestinal/nutrition recommendations : Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics : Genetics in Medicine : Springer Nature">{{cite web |url=https://www.nature.com/gim/journal/vaop/ncurrent/fig_tab/gim2014128b2.html |title=Gastrointestinal/nutrition recommendations : Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics : Genetics in Medicine : Springer Nature |format= |work= |accessdate=}}</ref><ref name="urlHepatic and hepatic transplant recommendations : Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics : Genetics in Medicine : Springer Nature">{{cite web |url=https://www.nature.com/gim/journal/vaop/ncurrent/fig_tab/gim2014128b3.html |title=Hepatic and hepatic transplant recommendations : Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics : Genetics in Medicine : Springer Nature |format= |work= |accessdate=}}</ref><ref name="urlimages.nature.com">{{cite web |url=https://images.nature.com/lw300/nature-assets/gim/journal/v16/n11/images/gim2014128i4.jpeg |title=images.nature.com |format= |work= |accessdate=}}</ref><ref name="urlimages.nature.com">{{cite web |url=https://images.nature.com/lw300/nature-assets/gim/journal/v16/n11/images/gim2014128i5.jpeg |title=images.nature.com |format= |work= |accessdate=}}</ref><ref name="urlimages.nature.com">{{cite web |url=https://images.nature.com/lw300/nature-assets/gim/journal/v16/n11/images/gim2014128i6.jpeg |title=images.nature.com |format= |work= |accessdate=}}</ref><ref name="urlimages.nature.com">{{cite web |url=https://images.nature.com/lw300/nature-assets/gim/journal/v16/n11/images/gim2014128i7.jpeg |title=images.nature.com |format= |work= |accessdate=}}</ref><ref name="urlimages.nature.com">{{cite web |url=https://images.nature.com/lw300/nature-assets/gim/journal/v16/n11/images/gim2014128i8.jpeg |title=images.nature.com |format= |work= |accessdate=}}</ref><ref name="urlimages.nature.com">{{cite web |url=https://images.nature.com/lw300/nature-assets/gim/journal/v16/n11/images/gim2014128i9.jpeg |title=images.nature.com |format= |work= |accessdate=}}</ref> | |||
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Revision as of 16:38, 13 November 2017
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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 |
|
Gastrointestinal or Nutritional recommendations |
|
Hepatic and hepatic transplantation recommendations |
|
Nephrology recommendations |
|
Hematology recommendations |
|
Cardiovascular recommendations= |
|
Surgery/anesthesia recommendations |
|
Gynecological/obstetrical recommendations |
|
Adopted fromGenetics in medicine[5][6][7][7][7][7][7][7] |
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.
- ↑ "Gastrointestinal/nutrition recommendations : Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics : Genetics in Medicine : Springer Nature".
- ↑ "Hepatic and hepatic transplant recommendations : Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics : Genetics in Medicine : Springer Nature".
- ↑ 7.0 7.1 7.2 7.3 7.4 7.5 "images.nature.com".