Glycogen storage disease type I secondary prevention: Difference between revisions
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{{Glycogen storage disease type I}} | {{Glycogen storage disease type I}} | ||
f{{CMG}}; {{AE}} {{Anmol}} | |||
==Overview== | ==Overview== | ||
Effective measures for secondary prevention of glycogen storage disease type 1 (GSD type 1) include [[Blood glucose monitoring|blood glucose (BG) monitoring]], prevent overtreatment, growth tracking as well as several system wise recommendations including general medical care, [[gastrointestinal]] or [[Nutrition|nutritional]], [[hepatic]] and [[Liver transplantation|hepatic transplantation]], [[nephrology]], [[hematology]], [[cardiovascular]], [[surgery]]/[[anesthesia]], and [[Gynaecology|gynecological]]/[[obstetrical]] recommendations. | |||
==Secondary Prevention== | ==Secondary Prevention== | ||
Effective measures for secondary prevention of GSD type 1 include:<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> | Effective measures for secondary prevention of glycogen storage disease type 1 (GSD type 1) include:<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> | ||
* [[Blood glucose monitoring|Blood glucose (BG) monitoring]] | * [[Blood glucose monitoring|Blood glucose (BG) monitoring]] | ||
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* [[Hematology]] recommendations | * [[Hematology]] recommendations | ||
* [[Cardiovascular]] recommendations | * [[Cardiovascular]] recommendations | ||
* [[Surgery]] | * [[Surgery]] and [[anesthesia]] recommendations | ||
* [[Gynaecology|Gynecological]] | * [[Gynaecology|Gynecological]] and [[obstetrical]] recommendations | ||
===Blood glucose (BG) monitoring=== | ===Blood glucose (BG) monitoring=== | ||
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* The following [[blood glucose]] levels should be checked for 2–3 days before the clinic visit: | * The following [[blood glucose]] levels should be checked for 2–3 days before the clinic visit: | ||
**Before meals | **Before meals | ||
**Before cornstarch (CS) intake | **Before cornstarch (CS) intake | ||
**Before and after exercise | **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. | *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==== | ====Lactate meter==== | ||
*The [[lactate]] meter is a portable device to measure [[lactate]] concentration.<ref name="pmid16151900">{{cite journal| author=Saunders AC, Feldman HA, Correia CE, Weinstein DA| title=Clinical evaluation of a portable lactate meter in type I glycogen storage disease. | journal=J Inherit Metab Dis | year= 2005 | volume= 28 | issue= 5 | pages= 695-701 | pmid=16151900 | doi=10.1007/s10545-005-0090-1 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16151900 }} </ref> | *The [[lactate]] meter is a portable device to measure [[lactate]] concentration.<ref name="pmid16151900">{{cite journal| author=Saunders AC, Feldman HA, Correia CE, Weinstein DA| title=Clinical evaluation of a portable lactate meter in type I glycogen storage disease. | journal=J Inherit Metab Dis | year= 2005 | volume= 28 | issue= 5 | pages= 695-701 | pmid=16151900 | doi=10.1007/s10545-005-0090-1 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16151900 }} </ref> | ||
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===Prevent overtreatment=== | ===Prevent overtreatment=== | ||
*Parents should be educated to avoid overtreating patients. | *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]].<ref name="pmid21491105">{{cite journal| author=Bhattacharya K| title=Dietary dilemmas in the management of glycogen storage disease type I. | journal=J Inherit Metab Dis | year= 2011 | volume= 34 | issue= 3 | pages= 621-9 | pmid=21491105 | doi=10.1007/s10545-011-9322-8 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21491105 }} </ref> | *Overtreatment may result in complications including increased [[glycogen]] storage and over time may lead to [[hyperinsulinemia]] and [[insulin resistance]].<ref name="pmid21491105">{{cite journal| author=Bhattacharya K| title=Dietary dilemmas in the management of glycogen storage disease type I. | journal=J Inherit Metab Dis | year= 2011 | volume= 34 | issue= 3 | pages= 621-9 | pmid=21491105 | doi=10.1007/s10545-011-9322-8 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21491105 }} </ref> | ||
===Growth tracking=== | ===Growth tracking=== | ||
*Growth should be tracked through parameters including:<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> | *Growth should be tracked through parameters including:<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> | ||
**Height | **Height | ||
**Weight | **Weight | ||
**Weight/height ratio | **Weight/height ratio | ||
**Body mass index | **[[Body mass index]] | ||
**Head circumference | **Head circumference | ||
*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. | ||
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{| | {| | ||
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===General medical care recommendations=== | ===General medical care recommendations=== | ||
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*All patients should wear a medical alert identification. | *All patients should wear a medical alert identification. | ||
|- | |- | ||
| 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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**Continuous gastric feedings may be used overnight. | **Continuous gastric feedings may be used overnight. | ||
*In adolescent and adults: | *In adolescent and adults: | ||
**Avoid fasting for more than 5-6 hours with the use of raw, uncooked cornstarch and/or OGFs; it is important to not change the brand of [[cornstarch]]. If changed, then monitoring of [[blood glucose]] levels after the change is necessary. | **Avoid fasting for more than 5-6 hours with the use of raw, uncooked [[cornstarch]] and/or OGFs; it is important to not change the brand of [[cornstarch]]. If changed, then monitoring of [[blood glucose]] levels after the change is necessary. | ||
**Plan for small, frequent meals (nutrient distribution:60-70% carbohydrates, 10-15% protein, <30% fat); avoid or limit [[sucrose]], [[fructose]], and [[galactose]]. | **Plan for small, frequent meals (nutrient distribution:60-70% [[carbohydrates]], 10-15% [[protein]], <30% [[fat]]); avoid or limit [[sucrose]], [[fructose]], and [[galactose]]. | ||
**Regular [[blood glucose monitoring]] is needed, especially during periods of growth. | **Regular [[blood glucose monitoring]] is needed, especially during periods of growth. | ||
*[[Multivitamins]], [[calcium]], and [[vitamin D]] are necessary because of the restricted nature of the diet. | *[[Multivitamins]], [[calcium]], and [[vitamin D]] are necessary because of the restricted nature of the diet. | ||
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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.''' | ||
|- | |- | ||
| 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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| style="background:#F5F5F5;" + | | | style="background:#F5F5F5;" + | | ||
*There should be monitoring for development of [[Liver adenoma|liver adenomas]] via [[liver imaging]] especially after the onset of [[puberty]]. | *There should be monitoring for development of [[Liver adenoma|liver adenomas]] via [[liver imaging]] especially after the onset of [[puberty]]. | ||
*[[Adenomas]] are often multiple. In some situations, there is a regression of [[adenomas]] noted with good metabolic control. Other [[Genetics|genetic]] factors can play a role in [[hepatic adenoma]] development. There is a risk for the [[hepatocellular adenoma]] (HCA) to [[hepatocellular carcinoma]] ([[Hepatocellular carcinoma|HCC]]) transformation, especially when there is a rapid increase in size or number of [[adenomas]], routine laboratory testing to include [[Liver function test|hepatic profile]] ([[SGOT|serum glutamic oxalacetic transaminase]], [[SGPT|serum glutamic pyruvic transaminase]], [[albumin]], [[bilirubin]]) should be performed every 6 months. In the setting of consideration of a [[liver transplantation]], laboratory testing that includes serum [[creatinine]] and [[international normalized ratio]] ([[prothrombin time]]/[[partial thromboplastin time]]) tests, in addition to [[Liver function tests|hepatic profile]], should be performed every 6 months. | *[[Adenomas]] are often multiple. In some situations, there is a regression of [[adenomas]] noted with good metabolic control. Other [[Genetics|genetic]] factors can play a role in [[hepatic adenoma]] development. There is a risk for the [[hepatocellular adenoma]] ([[Hepatocellular adenoma|HCA]]) to [[hepatocellular carcinoma]] ([[Hepatocellular carcinoma|HCC]]) transformation, especially when there is a rapid increase in size or number of [[adenomas]], routine laboratory testing to include [[Liver function test|hepatic profile]] ([[SGOT|serum glutamic oxalacetic transaminase]], [[SGPT|serum glutamic pyruvic transaminase]], [[albumin]], [[bilirubin]]) should be performed every 6 months. In the setting of consideration of a [[liver transplantation]], laboratory testing that includes serum [[creatinine]] and [[international normalized ratio]] ([[prothrombin time]]/[[partial thromboplastin time]]) tests, in addition to [[Liver function tests|hepatic profile]], should be performed every 6 months. | ||
*[[Alpha-fetoprotein|α-Fetoprotein]] and chorionic embryonic antigen levels are often normal, even in the setting of [[Hepatocellular carcinoma|HCC]], and do not predict [[hepatocellular adenoma]] to [[malignancy]] transformation. | *[[Alpha-fetoprotein|α-Fetoprotein]] and [[Carcinoembryonic antigen|chorionic embryonic antigen]] levels are often normal, even in the setting of [[Hepatocellular carcinoma|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. | ||
*Abdominal [[computed tomography]]/[[magnetic resonance imaging]] with contrast should be performed in older patients or patients within the pediatric age group once [[adenoma]] is detected on ultrasound and are to be repeated every 6 - 12 months or earlier based on laboratory and clinical findings. | *Abdominal [[computed tomography]]/[[magnetic resonance imaging]] with contrast should be performed in older patients or patients within the pediatric age group once [[adenoma]] is detected on ultrasound and are to be repeated every 6 - 12 months or earlier based on laboratory and clinical findings. | ||
*Percutaneous [[ethanol]] injections, [[radiofrequency ablation]], and partial [[liver resection]] are treatment options for [[Liver adenoma|liver adenomas]] (especially if an increase in size, number, or [[bleeding]] is noted). A high suspicion of [[Hepatocellular carcinoma|HCC]] is needed because no reliable biomarker is currently available for [[Hepatocellular adenoma|HCA]]-to-[[Hepatocellular carcinoma|HCC]] transformation. A sudden increase in size or number, or an increase in [[vascularity]] of [[adenomas]], is concerning for [[Hepatocellular carcinoma|HCC]] transformation. | *Percutaneous [[ethanol]] injections, [[radiofrequency ablation]], and partial [[liver resection]] are treatment options for [[Liver adenoma|liver adenomas]] (especially if an increase in size, number, or [[bleeding]] is noted). A high suspicion of [[Hepatocellular carcinoma|HCC]] is needed because no reliable biomarker is currently available for [[Hepatocellular adenoma|HCA]]-to-[[Hepatocellular carcinoma|HCC]] transformation. A sudden increase in size or number, or an increase in [[vascularity]] of [[adenomas]], is concerning for [[Hepatocellular carcinoma|HCC]] transformation. | ||
*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 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. | ||
|- | |- | ||
| 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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| style="background:#F5F5F5;" + | | | style="background:#F5F5F5;" + | | ||
*Diagnostic studies should be performed at routine visits to follow renal manifestations of GSD type 1, including: | *Diagnostic studies should be performed at routine visits to follow renal manifestations of GSD type 1, including: | ||
**[[Renal]] [[ultrasound]] to assess [[kidney]] size and growth, [[Kidney stone|nephrolithiasis]], or [[nephrocalcinosis]] | **[[Renal]] [[ultrasound]] to assess [[kidney]] size and growth, [[Kidney stone|nephrolithiasis]], or [[nephrocalcinosis]]. | ||
**[[Urinalysis]] for [[hematuria]] and [[proteinuria]] | **[[Urinalysis]] for [[hematuria]] and [[proteinuria]]. | ||
**Quantification by spot samples of urinary microalbumin/[[creatinine]] excretion, [[citrate]], and [[calcium]]/[[creatinine]] excretion | **Quantification by spot samples of urinary microalbumin/[[creatinine]] excretion, [[citrate]], and [[calcium]]/[[creatinine]] excretion. | ||
**Measurement of [[Electrolyte|serum electrolytes]], [[calcium]], and [[phosphate]]; [[blood urea nitrogen]] and serum [[creatinine]] along with calculation of estimated [[GFR]]. | **Measurement of [[Electrolyte|serum electrolytes]], [[calcium]], and [[phosphate]]; [[blood urea nitrogen]] and serum [[creatinine]] along with calculation of estimated [[GFR]]. | ||
*Consider initiating an [[ACE inhibitor]] or [[angiotensin receptor blockers]] ([[ARBs]]) with evidence of hyperfiltration (sustained estimated [[GFR]] >140ml/min/1.73 m<sup>2</sup>). | *Consider initiating an [[ACE inhibitor]] or [[angiotensin receptor blockers]] ([[ARBs]]) with evidence of hyperfiltration (sustained estimated [[GFR]] >140ml/min/1.73 m<sup>2</sup>). | ||
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*Maintain normal [[blood pressure]] for age. | *Maintain normal [[blood pressure]] for age. | ||
|- | |- | ||
| 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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| style="background:#F5F5F5;" + | | | style="background:#F5F5F5;" + | | ||
*Evaluation of [[anemia]] should include [[nutritional]] causes, [[adenomas]], [[enterocolitis]], [[menorrhagia]] in females, and [[occult blood]] loss. Evaluations should include [[Complete blood cell count|complete cell count]] with manual differential, serum iron, [[total iron-binding capacity]], and [[reticulocyte count]]. | *Evaluation of [[anemia]] should include [[nutritional]] causes, [[adenomas]], [[enterocolitis]], [[menorrhagia]] in females, and [[occult blood]] loss. Evaluations should include [[Complete blood cell count|complete cell count]] with manual differential, [[serum iron]], [[total iron-binding capacity]], and [[reticulocyte count]]. | ||
** In GSD type 1a, if [[anemia]] is severe, evaluation for [[Hepatic adenoma|hepatic adenomas]] should be performed. | ** In GSD type 1a, if [[anemia]] is severe, evaluation for [[Hepatic adenoma|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 [[Metabolism|metabolic]] control are recommended. Consider [[iron deficiency anemia]] if [[iron]] levels do not improve. | *If [[iron deficiency anemia]] is documented, [[iron]] supplementation (oral or i.v.) as needed and optimization of [[Metabolism|metabolic]] control are recommended. Consider [[iron deficiency anemia]] if [[iron]] levels do not improve. | ||
*[[Neutropenic]] patients with GSD type 1b should | *[[Neutropenic]] patients with GSD type 1b should be treated with [[granulocyte colony stimulating factor]] ([[G-CSF]]), particularly if there is already a history and pattern of [[fever]], [[Infection|infections]], or [[enterocolitis]]. | ||
**The lowest effective [[G-CSF]] dose should be used to avoid worsening of [[splenomegaly]], [[Splenomegaly|hypersplenism]], [[hepatomegaly]], and [[bone pain]]. [[G-CSF]] should be administered [[Subcutaneous|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 [[absolute neutrophil count]] 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. | **The lowest effective [[G-CSF]] dose should be used to avoid worsening of [[splenomegaly]], [[Splenomegaly|hypersplenism]], [[hepatomegaly]], and [[bone pain]]. [[G-CSF]] should be administered [[Subcutaneous|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 [[absolute neutrophil count]] 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 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]]. | ||
|- | |- | ||
| 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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===Cardiovascular recommendations | ===Cardiovascular recommendations=== | ||
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| style="background:#F5F5F5;" + | | | style="background:#F5F5F5;" + | | ||
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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. | ||
|- | |- | ||
| 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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===Surgery | ===Surgery and anesthesia recommendations=== | ||
|- | |- | ||
| style="background:#F5F5F5;" + | | | style="background:#F5F5F5;" + | | ||
*Educate parents about symptoms of [[hypoglycemia]] and [[Metabolism|metabolic]] [[decompensation]]. | *Educate parents about symptoms of [[hypoglycemia]] and [[Metabolism|metabolic]] [[decompensation]]. | ||
*Enable parents to provide oral or [[Nasogastric tube|nasogastric]] glucose during minor ailments. | *Enable parents to provide oral or [[Nasogastric tube|nasogastric]] glucose during minor ailments. | ||
*Parents should be provided | *Parents should be provided an emergency treatment plan. | ||
*Careful management of the patient's [[glucose]] and [[Electrolyte disturbance|electrolytes]] during [[surgery]] is necessary. | *Careful management of the patient's [[glucose]] and [[Electrolyte disturbance|electrolytes]] during [[surgery]] is necessary. | ||
*Admission 24h before [[surgical procedure]] allows for i.v. fluids with [[Dextrose 10% and Electrolyte No. 48|dextrose 10]] and metabolic control. | *Admission 24h before [[surgical procedure]] allows for i.v. fluids with [[Dextrose 10% and Electrolyte No. 48|dextrose 10]] and metabolic control. | ||
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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. | ||
|- | |- | ||
| 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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===Gynecological | |||
===Gynecological and obstetrical recommendations=== | |||
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| style="background:#F5F5F5;" + | | | style="background:#F5F5F5;" + | | ||
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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. | ||
|- | |- | ||
| 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]''' | ||
|} | |} | ||
==References== | ==References== | ||
{{reflist|2}} | {{reflist|2}} | ||
[[Category:Endocrinology]] | [[Category:Endocrinology]] | ||
[[Category:Hepatology]] | [[Category:Hepatology]] | ||
[[Category:Gastroenterology]] | |||
[[Category:Pediatrics]] | |||
[[Category:Up-To-Date]] | |||
[[Category:Genetic disorders]] | |||
[[Category:Metabolic disorders]] | |||
{{WS}} | {{WS}} | ||
{{WH}} | {{WH}} |
Latest revision as of 20:02, 4 April 2018
Glycogen storage disease type I Microchapters |
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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 |
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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.