Glycogen storage disease type I secondary prevention: Difference between revisions
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{{Glycogen storage disease type I}} | {{Glycogen storage disease type I}} | ||
{{CMG}}; {{AE}} {{Anmol}} | f{{CMG}}; {{AE}} {{Anmol}} | ||
==Overview== | ==Overview== | ||
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*All patients should wear a medical alert identification. | *All patients should wear a medical alert identification. | ||
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| style="background:#DCDCDC; + " |<small>''' | | style="background:#DCDCDC; + " |<small>'''Adapted from [https://www.nature.com/gim/journal/vaop/ncurrent/full/gim2014128a.html#bx2| Genetics in medicine]''' | ||
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*'''Good glucose control improves several of the metabolic sequelae of GSD 1.''' | *'''Good glucose control improves several of the metabolic sequelae of GSD 1.''' | ||
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| style="background:#DCDCDC; + " |<small>''' | | style="background:#DCDCDC; + " |<small>'''Adapted from [https://www.nature.com/gim/journal/vaop/ncurrent/full/gim2014128a.html#bx2| Genetics in medicine]''' | ||
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*Monitoring of the patient's [[MELD]] score is critical because it is used to assess the extent of liver disease and for ranking for [[liver transplantation]]. The latter should be performed at centers with experience in ranking GSD type 1 severity. | *Monitoring of the patient's [[MELD]] score is critical because it is used to assess the extent of liver disease and for ranking for [[liver transplantation]]. The latter should be performed at centers with experience in ranking GSD type 1 severity. | ||
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| style="background:#DCDCDC; + " |<small>''' | | style="background:#DCDCDC; + " |<small>'''Adapted from [https://www.nature.com/gim/journal/vaop/ncurrent/full/gim2014128a.html#bx2| Genetics in medicine]''' | ||
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*Maintain normal [[blood pressure]] for age. | *Maintain normal [[blood pressure]] for age. | ||
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| style="background:#DCDCDC; + " |<small>''' | | style="background:#DCDCDC; + " |<small>'''Adapted from [https://www.nature.com/gim/journal/vaop/ncurrent/full/gim2014128a.html#bx2| Genetics in medicine]''' | ||
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*[[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]]. | *[[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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| style="background:#DCDCDC; + " |<small>''' | | style="background:#DCDCDC; + " |<small>'''Adapted from [https://www.nature.com/gim/journal/vaop/ncurrent/full/gim2014128a.html#bx2| Genetics in medicine]''' | ||
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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>''' | | style="background:#DCDCDC; + " |<small>'''Adapted from [https://www.nature.com/gim/journal/vaop/ncurrent/full/gim2014128a.html#bx2| Genetics in medicine]''' | ||
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*[[Intravenous therapy|Intravenous]] [[glucose]]-containing fluids or [[nutrition]] ([[total parenteral nutrition]] is indicated) should not be discontinued abruptly; this should be performed only after the patient is [[eating]] and maintaining [[blood glucose]] levels. | *[[Intravenous therapy|Intravenous]] [[glucose]]-containing fluids or [[nutrition]] ([[total parenteral nutrition]] is indicated) should not be discontinued abruptly; this should be performed only after the patient is [[eating]] and maintaining [[blood glucose]] levels. | ||
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| style="background:#DCDCDC; + " |<small>''' | | style="background:#DCDCDC; + " |<small>'''Adapted from [https://www.nature.com/gim/journal/vaop/ncurrent/full/gim2014128a.html#bx2| Genetics in medicine]''' | ||
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*[[Pregnancies]] should be followed by a high-risk [[obstetrician]] in a tertiary setting. | *[[Pregnancies]] should be followed by a high-risk [[obstetrician]] in a tertiary setting. | ||
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| style="background:#DCDCDC; + " |<small>''' | | style="background:#DCDCDC; + " |<small>'''Adapted from [https://www.nature.com/gim/journal/vaop/ncurrent/full/gim2014128a.html#bx2| Genetics in medicine]''' | ||
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Latest revision as of 20:02, 4 April 2018
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fEditor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Anmol Pitliya, M.B.B.S. M.D.[2]
Overview
Effective measures for secondary prevention of glycogen storage disease type 1 (GSD type 1) include blood glucose (BG) monitoring, prevent overtreatment, growth tracking as well as several system wise recommendations including general medical care, gastrointestinal or nutritional, hepatic and hepatic transplantation, nephrology, hematology, cardiovascular, surgery/anesthesia, and gynecological/obstetrical recommendations.
Secondary Prevention
Effective measures for secondary prevention of glycogen storage disease type 1 (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 and anesthesia recommendations
- Gynecological and 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 blood glucose testing is done before each clinic visit to adjust diet, cornstarch (CS) intake, and overnight gastric feedings (OGFs).
- The following blood glucose 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, blood glucose 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 blood glucose 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 blood glucose 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 |
|
Adapted from Genetics in medicine |
Gastrointestinal or Nutritional recommendations |
|
Adapted from Genetics in medicine |
Hepatic and hepatic transplantation recommendations |
|
Adapted from Genetics in medicine |
Nephrology recommendations |
|
Adapted from Genetics in medicine |
Hematology recommendations |
|
Adapted from Genetics in medicine |
Cardiovascular recommendations |
|
Adapted from Genetics in medicine |
Surgery and anesthesia recommendations |
|
Adapted from Genetics in medicine |
Gynecological and obstetrical recommendations |
|
Adapted 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.