Glycogen storage disease type I secondary prevention: Difference between revisions
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* Prevent overtreatment | * Prevent overtreatment | ||
* Growth tracking | * Growth tracking | ||
* General medical care recommendations | |||
* Gastrointestinal or Nutritional recommendations | * Gastrointestinal or Nutritional recommendations | ||
* Hepatic and hepatic transplantation recommendations | * Hepatic and hepatic transplantation recommendations | ||
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*all patients should wear a medical alert identification. | *all patients should wear a medical alert identification. | ||
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===Gastrointestinal or Nutritional recommendations=== | ===Gastrointestinal or Nutritional recommendations=== | ||
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** In GSD type 1a, if anemia is severe, evaluation for hepatic adenomas should be performed. | ** In GSD type 1a, if anemia is severe, evaluation for hepatic adenomas should be performed. | ||
**In GSD type 1b, if anemia is severe, evaluation for GSD enterocolitis should be performed. | **In GSD type 1b, if anemia is severe, evaluation for GSD enterocolitis should be performed. | ||
*If iron deficiency anemia is documented, iron supplementation (oral or i.v.) as needed and optimization of metabolic control are recommended. Consider iron deficiency anemia if iron levels | *If iron deficiency anemia is documented, iron supplementation (oral or i.v.) as needed and optimization of metabolic control are recommended. Consider iron deficiency anemia if iron levels do not improve. | ||
*Neutropenic patients with GSD type 1b should e treated with G-CSF, particularly if there is already a history and pattern of fever, infections, or enterocolitis. | *Neutropenic patients with GSD type 1b should e treated with G-CSF, particularly if there is already a history and pattern of fever, infections, or enterocolitis. | ||
**The lowest effective G-CSF dose should be used to avoid worsening of splenomegaly, hypersplenism, hepatomegaly, and bone pain. G-CSF should be administered subcutaneously starting at 0.5 -1.0 µg per kilogram per day given daily or every other day. The G-CSF dose should be increased stepwise at approximately 2-week intervals until the target ANC of more than 500 to | **The lowest effective G-CSF dose should be used to avoid worsening of splenomegaly, hypersplenism, hepatomegaly, and bone pain. G-CSF should be administered subcutaneously starting at 0.5 -1.0 µg per kilogram per day given daily or every other day. The G-CSF dose should be increased stepwise at approximately 2-week intervals until the target ANC of more than 500 to up to 1.0 x 10<sup>9</sup>/L is reached. This dose then should be maintained, adjusting for subsequent increases in the patient's weight with growth and development. | ||
*Blood count with manual differential should be monitored several times per year. Bone marrow examinations are not recommended unless | *Blood count with manual differential should be monitored several times per year. Bone marrow examinations are not recommended unless there is an unexpected change in the patient's other blood counts. | ||
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*Screen systemic blood pressure to detect systemic hypertension | *Screen systemic blood pressure to detect systemic hypertension beginning in infancy. | ||
*Maintain lipid levels within the normal range to prevent atherosclerosis and pancreatitis. | *Maintain lipid levels within the normal range to prevent atherosclerosis and pancreatitis. | ||
*Screen for pulmonary hypertension by | *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> | | 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> | ||
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Revision as of 16:22, 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
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= |
|
Adopted fromGenetics in medicine[5][6][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 "images.nature.com".