The Clinical Management of Pompe Disease: A Pediatric Perspective

Marques, Jorge Sales

doi:10.3390/children9091404

Cited by 8 publications

(10 citation statements)

References 64 publications

(87 reference statements)

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“…Im niższa aktywność , lub całkowity jej brak, tych choroba przybiera bardziej agresywny przebieg i wcześniejsze wystąpienie objawów. [3] Przegląd dotychczasowej literatury pozwala na różnicowanie dwóch głównych podtypów PD. Pierwszym z nich jest postać wczesnodziecięca ,która charakteryzuje się wiekiem zachorowania poniżej 12 miesiąca życia.…”

Section: Manifestacje Kliniczne Choroby Pompegounclassified

“…Osłabienie mięśni zwykle charakteryzuje się początkiem w partiach dystalnych, a dopiero w następnej kolejności zajmowane są mięśnie proksymalne. [3] , [7] Zaobserwować można problemy w karmieniu, zmiany w przewodzie pokarmowym m.in. powiększenie wątroby i znaczne opóźnienie rozwoju motorycznego co skutkuje często brakiem osiągania podstawowych zdolności takich jak siadanie, przewracanie czy chodzenie .…”

Section: Manifestacje Kliniczne Choroby Pompegounclassified

“…[6] W ocenie układu oddechowego ważnym badaniem pozostaje pomiar natężonej pojemności życiowej (FVC), gdzie zmiana wartości z pozycji pionowej do leżącej wynosząca powyżej 20% może wskazywać na zajęcie przepony. [3] Inne parametry służące ocenie mięśni oddechowych to między innymi maksymalne ciśnienie wydechowe oraz pletyzmograficzna ocena objętości płuc. Wczesne rozpoznanie PD jest kluczowe dla poprawy odsetka przeżycia pacjentów, co szczególnie krytyczne jest w postaci pojawiającej się przed ukończeniem 12 miesiąca życia, gdzie przebieg choroby jest niezwykle szybki i ciężki.…”

Section: Tabela 1charakterystyczne Objawy Kliniczne Pacjentów Z Pd Z ...unclassified

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Pompe disease - What do we currently know about the disease?

Białowąs

Mazurek²,

Aghadi³

et al. 2023

J Educ Health Sport

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Introduction: Pompe disease (PD) is a rare metabolic disorder caused by a partial or complete deficiency of acid α-glucosidase (GAA) which leads to lysosomal accumulation of glycogen. Excessive amounts of glycogen accumulate mainly in the cells of the heart and skeletal muscles and cause dysfunction of these tissues. It is inherited in an autosomal recessive manner. The most common diagnostic methods include genetic tests and the measurement of enzyme activity in leukocytes or fibroblasts. A screening test is also available that tests the enzyme activity in dried blood spot (DBS). The treatment of PD is mostly based on synthetic GAA enzyme supply to the patients. The therapy reduces glycogen storage and improves muscle function, decreases heart size and prolongs the lives of those with infantile form of PD. In the adult onset of the disease treatment increases physical efficiency and reduces the progression of respiratory failure. Aim of the study: Systematization of current knowledge about Pompe disease with particular emphasis on possible clinical presentations, diagnostics and therapeutic options. Material and methods: Literature review based on PubMed data using the following keywords: Pompe disease, Glycogenosis type ii, glucosidase alpha Summary : Pompe disease is a rare disease with many problems related to diagnosis and possible therapies. Its symptoms can be very misleading and cause a delay in diagnosis . It is critical to start the therapy as soon as possible to best manage the disease. The prognosis of PD is poor, especially in children under 12 months of age. Gene therapy research is currently underway and early results are very promising. There is still much to learn about dealing with this disease.

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Section: Manifestacje Kliniczne Choroby Pompegounclassified

Section: Tabela 1charakterystyczne Objawy Kliniczne Pacjentów Z Pd Z ...unclassified

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Pompe disease - What do we currently know about the disease?

Białowąs

Mazurek²,

Aghadi³

et al. 2023

J Educ Health Sport

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“…Based on the age of onset, residual GAA activity, and clinical phenotype, we can distinguish two different clinical entities [1,2]. The first is infantile-onset Pompe disease (IOPD), characterized by an early onset within the first year of life, a rapid progression, and a more severe prognosis.…”

Section: Introductionmentioning

confidence: 99%

Assessment of Parental Needs and Quality of Life in Children with a Rare Neuromuscular Disease (Pompe Disease): A Quantitative–Qualitative Study

Benedetto,

Musumeci,

Giordano

et al. 2023

Behavioral Sciences

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Pompe disease (PD) is a rare metabolic disorder with progressive neuromuscular consequences that negatively impact a child’s development and quality of life (QoL). Despite an improved prognosis with treatment, the risk for early death due cardiorespiratory crisis remains. Parents not only face physical fatigue and family distress in coping with the child’s special needs but also experience emotions, worries, and unexpressed needs (a “humanistic burden”) that require supportive interventions. Fourteen parents of children with PD completed an online self-report questionnaire assessing their child’s QoL, their own parental burden of care, and disease-related issues. The aim was to estimate the associations between the child’s QoL and the caregiver’s burden levels. Three mothers were also interviewed. A total of 57.1% of parents lived with moderate/severe burden conditions; worse QoL for the child was associated with higher levels of caregiver burden (rS[N = 14] = −0.67, p < 0.01). Uncertainty about the child’s future was a state commonly described by mothers. However, the child’s resilience, normalization of disease, and coping strategies (primarily positive appraisal and focusing on the present) alleviated suffering and helped mothers maintain family functioning. Finally, dissatisfaction with communication in relationships with professionals emerged. In conclusion, a typical pediatric palliative care approach is recommended since it manages to guarantee parents empathetic and supportive communication from healthcare professionals, alleviating feelings of isolation and loneliness in parents.

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“…In this Special Issue, the authors explain the complexity of diagnosing and communicating diagnoses of rare genetic entities, such as Noonan Syndrome, MECP2 duplication syndromes, Nieman-Pick type C disease, Pompe disease, hypohidrotic ectodermal dysplasia, retropharyngeal synovial cell carcinoma, 22q.11.2 deletion syndrome, and Pfeiffer syndrome [ 1 , 2 , 3 , 4 , 5 , 6 , 7 , 8 ].…”

mentioning

confidence: 99%