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Pompe disease diagnosis and management guideline.

ACMG Work Group on Management of Pompe DiseaseKishnani PS, Steiner RD, Bali D, Berger K, Byrne BJ, Case LE, Case L, Crowley JF, Downs S, Howell RR, Kravitz RM, Mackey J, Marsden D, Martins AM, Millington DS, Nicolino M, O'Grady G, Patterson MC, Rapoport DM, Slonim A, Spencer CT, Tifft CJ, Watson MS - Genet. Med. (2006)

View Article: PubMed Central - PubMed

Affiliation: Duke University Medical Center, NC, USA.

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In Pompe disease, lysosomal glycogen accumulates in many tissues with skeletal, cardiac, and smooth muscle most prominently involved., All patients with Pompe disease share the same general disease course, namely the steady accumulation of glycogen substrate in target tissues leading to progressive debilitation, organ failure and/or death; resulting in a spectrum of disease severity... CK elevation is a sensitive although very nonspecific marker for Pompe disease... The greatest elevation is usually found in infantile-onset patients (as high as 2000 UI/L)... In the past, leukocytes isolated from whole blood have not been a reliable tissue for the measure of GAA activity owing to interfering maltases... The most significant interference has been recognized as the maltase-glucoamylase (MGA) activity found in polymorphonuclear leukocytes... The exon 18 deletion mutation is seen in infantile-onset cases and accounts for about 25% of Dutch and Canadian cases but only about 5% of U.S. cases., The leaky IVS1(-13T->G) splice-site mutation accounts for about 50% of late-onset cases... There are some populations in which particular mutations are more common due to founder effects while allelic heterogeneity can be significant in admixed populations as exist in the U.S. The R854X mutation is found in many African American and African cases; D645E is seen in many Chinese infantile cases; the 2741AG->CAGG insertion is seen in Turkish cases; and the G925A mutation is seen in many European cases... Momentum is used to maximize kinematic advantage... Although compensations are effective in maximizing function initially, persistent use of compensation over time can lead to biomechanical disadvantage, contracture, and deformity leading to increasing weakness and disability., With severe, early weakness, the unopposed influence of gravity has the most profound effect on positioning and the development of contracture and deformity... There is evidence in the Pompe mouse model that ERT may differentially clear glycogen from cardiac and type I muscle fibers more efficiently and more fully than from type II fibers, this finding may have an impact on strengthening... Screening should include a DEXA (dual energy x-ray absorptiometry)... Care in interpreting the results of DEXA in infants and children, is needed to ensure that the results are compared with age- and gender–matched controls... Intraoperative cardiac arrest during halothane anesthesia and sevoflurane inhalation induction followed by a maintenance infusion of propofol in infantile Pompe has previously been reported., With the advent of emerging therapies such as ERT, survival of these patients has increased and more surgical procedures are being performed... Several open-label clinical trials involving patients with infantile-onset Pompe disease have shown that enzyme replacement therapy significantly prolongs survival,– decreases cardiomegaly, and improves cardiac and skeletal muscle function... Studies demonstrate that expression of the acid alpha glucosidase gene within muscle cells or in some cases secretion of GAA from liver leads to a reduction of the glycogen storage abnormality in the mice.

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Diagnostic algorithm for late onset (> 1 year) Pompe disease.
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f2-16702877: Diagnostic algorithm for late onset (> 1 year) Pompe disease.

Mentions: The diagnosis of Pompe disease often poses a diagnostic dilemma due to the rarity of the condition and the relatively nonspecific nature of the phenotypic features that may only in aggregate lead to suspicion of Pompe disease. The diseases that are important in the differential diagnosis of infantile and late onset Pompe disease are shown in Tables 1 and 2 respectively. Diagnostic algorithms that stem from key presenting features for infantile-onset and late onset Pompe disease are shown in Figures 1 and 2, respectively.21 After diagnosis, the interval for clinical follow-up of Pompe disease patients must be individualized for the patient, but a general guide of close follow up for infantile Pompe disease patients and every six months for older and late-onset Pompe disease patients is useful.


Pompe disease diagnosis and management guideline.

ACMG Work Group on Management of Pompe DiseaseKishnani PS, Steiner RD, Bali D, Berger K, Byrne BJ, Case LE, Case L, Crowley JF, Downs S, Howell RR, Kravitz RM, Mackey J, Marsden D, Martins AM, Millington DS, Nicolino M, O'Grady G, Patterson MC, Rapoport DM, Slonim A, Spencer CT, Tifft CJ, Watson MS - Genet. Med. (2006)

Diagnostic algorithm for late onset (> 1 year) Pompe disease.
© Copyright Policy
Related In: Results  -  Collection

Show All Figures
getmorefigures.php?uid=PMC3110959&req=5

f2-16702877: Diagnostic algorithm for late onset (> 1 year) Pompe disease.
Mentions: The diagnosis of Pompe disease often poses a diagnostic dilemma due to the rarity of the condition and the relatively nonspecific nature of the phenotypic features that may only in aggregate lead to suspicion of Pompe disease. The diseases that are important in the differential diagnosis of infantile and late onset Pompe disease are shown in Tables 1 and 2 respectively. Diagnostic algorithms that stem from key presenting features for infantile-onset and late onset Pompe disease are shown in Figures 1 and 2, respectively.21 After diagnosis, the interval for clinical follow-up of Pompe disease patients must be individualized for the patient, but a general guide of close follow up for infantile Pompe disease patients and every six months for older and late-onset Pompe disease patients is useful.

View Article: PubMed Central - PubMed

Affiliation: Duke University Medical Center, NC, USA.

AUTOMATICALLY GENERATED EXCERPT
Please rate it.

In Pompe disease, lysosomal glycogen accumulates in many tissues with skeletal, cardiac, and smooth muscle most prominently involved., All patients with Pompe disease share the same general disease course, namely the steady accumulation of glycogen substrate in target tissues leading to progressive debilitation, organ failure and/or death; resulting in a spectrum of disease severity... CK elevation is a sensitive although very nonspecific marker for Pompe disease... The greatest elevation is usually found in infantile-onset patients (as high as 2000 UI/L)... In the past, leukocytes isolated from whole blood have not been a reliable tissue for the measure of GAA activity owing to interfering maltases... The most significant interference has been recognized as the maltase-glucoamylase (MGA) activity found in polymorphonuclear leukocytes... The exon 18 deletion mutation is seen in infantile-onset cases and accounts for about 25% of Dutch and Canadian cases but only about 5% of U.S. cases., The leaky IVS1(-13T->G) splice-site mutation accounts for about 50% of late-onset cases... There are some populations in which particular mutations are more common due to founder effects while allelic heterogeneity can be significant in admixed populations as exist in the U.S. The R854X mutation is found in many African American and African cases; D645E is seen in many Chinese infantile cases; the 2741AG->CAGG insertion is seen in Turkish cases; and the G925A mutation is seen in many European cases... Momentum is used to maximize kinematic advantage... Although compensations are effective in maximizing function initially, persistent use of compensation over time can lead to biomechanical disadvantage, contracture, and deformity leading to increasing weakness and disability., With severe, early weakness, the unopposed influence of gravity has the most profound effect on positioning and the development of contracture and deformity... There is evidence in the Pompe mouse model that ERT may differentially clear glycogen from cardiac and type I muscle fibers more efficiently and more fully than from type II fibers, this finding may have an impact on strengthening... Screening should include a DEXA (dual energy x-ray absorptiometry)... Care in interpreting the results of DEXA in infants and children, is needed to ensure that the results are compared with age- and gender–matched controls... Intraoperative cardiac arrest during halothane anesthesia and sevoflurane inhalation induction followed by a maintenance infusion of propofol in infantile Pompe has previously been reported., With the advent of emerging therapies such as ERT, survival of these patients has increased and more surgical procedures are being performed... Several open-label clinical trials involving patients with infantile-onset Pompe disease have shown that enzyme replacement therapy significantly prolongs survival,– decreases cardiomegaly, and improves cardiac and skeletal muscle function... Studies demonstrate that expression of the acid alpha glucosidase gene within muscle cells or in some cases secretion of GAA from liver leads to a reduction of the glycogen storage abnormality in the mice.

Show MeSH
Related in: MedlinePlus