Glycogen storage disease type I secondary prevention: Difference between revisions
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*Changes in growth pattern is observed in poor metabolic control of GSD type 1. | *Changes in growth pattern is observed in poor metabolic control of GSD type 1. | ||
===Liver screening=== | |||
*Liver should be screened routinely in patients with GSD type 1.<ref name="pmid15877204">{{cite journal| author=Franco LM, Krishnamurthy V, Bali D, Weinstein DA, Arn P, Clary B et al.| title=Hepatocellular carcinoma in glycogen storage disease type Ia: a case series. | journal=J Inherit Metab Dis | year= 2005 | volume= 28 | issue= 2 | pages= 153-62 | pmid=15877204 | doi=10.1007/s10545-005-7500-2 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=15877204 }} </ref><ref name="KishnaniAustin2014">{{cite journal|last1=Kishnani|first1=Priya S.|last2=Austin|first2=Stephanie L.|last3=Abdenur|first3=Jose E.|last4=Arn|first4=Pamela|last5=Bali|first5=Deeksha S.|last6=Boney|first6=Anne|last7=Chung|first7=Wendy K.|last8=Dagli|first8=Aditi I.|last9=Dale|first9=David|last10=Koeberl|first10=Dwight|last11=Somers|first11=Michael J.|last12=Burns Wechsler|first12=Stephanie|last13=Weinstein|first13=David A.|last14=Wolfsdorf|first14=Joseph I.|last15=Watson|first15=Michael S.|title=Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics|journal=Genetics in Medicine|year=2014|issn=1098-3600|doi=10.1038/gim.2014.128}}</ref> | |||
*In children (<18 years), liver ultrasound is the imaging modality of choice and should be performed every 12–24 months. | |||
*As age increases, Ct scan or MRI using i.v. contrast may be considered to look for evidence of | |||
**Increasing size of lesion | |||
**Poorly defined margins | |||
**Spontaneous hemorrhage | |||
*Laboratory testing should be done every 6 months to yearly to monitor the extent and progression of hepatic disease, particularly in the setting of liver transplantation. Laboratory tests should include: | |||
*Serum transaminases | |||
*Creatinine | |||
*International normalized ratio (prothrombin time/partial thromboplastin time) | |||
*Albumin | |||
*Bilirubin tests | |||
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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
- Gastrointestinal or Nutritional recommendations
- Liver screening
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.
Liver screening
- Liver should be screened routinely in patients with GSD type 1.[5][1]
- In children (<18 years), liver ultrasound is the imaging modality of choice and should be performed every 12–24 months.
- As age increases, Ct scan or MRI using i.v. contrast may be considered to look for evidence of
- Increasing size of lesion
- Poorly defined margins
- Spontaneous hemorrhage
- Laboratory testing should be done every 6 months to yearly to monitor the extent and progression of hepatic disease, particularly in the setting of liver transplantation. Laboratory tests should include:
- Serum transaminases
- Creatinine
- International normalized ratio (prothrombin time/partial thromboplastin time)
- Albumin
- Bilirubin tests
Gastrointestinal or Nutritional recommendations |
|
Adopted from Genetics in medicine[1] |
References
- ↑ 1.0 1.1 1.2 1.3 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.
- ↑ Franco LM, Krishnamurthy V, Bali D, Weinstein DA, Arn P, Clary B; et al. (2005). "Hepatocellular carcinoma in glycogen storage disease type Ia: a case series". J Inherit Metab Dis. 28 (2): 153–62. doi:10.1007/s10545-005-7500-2. PMID 15877204.