Nature and Prevalence of Pain in Fabry Disease and Its Response to Enzyme Replacement Therapy—A Retrospective Analysis From the Fabry Outcome Survey

Hoffmann, B.; Beck, Michael; Sunder‐Plassmann, Gere; Borsini, Walter; Ricci, Roberta; Mehta, Atul

doi:10.1097/ajp.0b013e318074c986

Cited by 122 publications

(93 citation statements)

References 36 publications

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“…Those treated with rh␣GAL also demonstrated significant reduction in pain scores. 115 Subsequent studies have indicated that ERT also stabilizes renal function if initiated in patients with urinary protein excretion Ͻ1 g/24 hours. ERT also slows progression of renal insufficiency in those with significant proteinuria, improves pulmonary and gastrointestinal symptoms, and reduces renal, cardiac, and CNS events.…”

Section: Therapymentioning

confidence: 99%

Lysosomal storage diseases: Diagnostic confirmation and management of presymptomatic individuals

Wang

Bodamer

Watson

et al. 2011

Genetics in Medicine

206

242

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Section: Therapymentioning

confidence: 99%

Lysosomal storage diseases: Diagnostic confirmation and management of presymptomatic individuals

Wang

Bodamer

Watson

et al. 2011

Genetics in Medicine

206

242

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“…Невропатическая боль, или акропарестезии, наи-более часто оказываются первым симптомом заболе-вания и встречаются у 60-80% детей с классической болезнью Фабри [16,17]. Акропарестезии -это дли-тельная, интенсивная, жгучая, колющая, изнуряющая боль, возникающая в дистальных отелах конечностей.…”

Section: этиология и патогенезunclassified

Fabry Disease: Symptoms in Children and Teenagers

Кузенкова¹,

Намазова-Баранова²,

Podkletnova³

et al. 2015

Vopr. sovr. pediatr.

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“…For example genetic factors can create a physiological problem without the phenotype e.g. the shortage of an enzyme in Gaucher's disease [57] and Fabry's disease [58]; however the nature or proteins which are involved in the immune function also influence cardiovascular health [25].…”

Section: The Relationship Between Sensory Input and Biological Inputmentioning

confidence: 99%

The Framework of a Mathematical Model of the Autonomic Nervous System and Physiological Systems: Using the Neuroregulation of Blood Glucose as an Example

Ewing¹

2015

J Comput Sci Syst Biol

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IntroductionOur sense perception enables us to eat the correct amounts of food and, under normal circumstances, we cease eating when we have eaten sufficient food, and we drink sufficient to sati sfy the body 's need for liquid. We breathe at the normal expected rate, our heart pumps at the expected rate and maintain the normal level of blood pressure, our body maintains the normal levels of acidity and temperature, we sleep for 7-8 hours per night, etc. This suggests that the body is being regulated by a biological control mechanism of enormous sophistication and complexity, which has an enormous processing capacity; however as we age, and particularly as we age beyond 50 years, the mechanism which maintains our function become increasingly less able to sustain the levels of oxygen, blood glucose, blood cell content and a myriad of other biological components which the brain requires to function [1]. The i nnate g enetic c apacity o f key o rgans d eclines a nd r esults in shortages of proteins, hormones, etc. This h as a k nock-on e ffect affecting one biological sequence after another.The cumulative effect of our lifetime of experiences, due to environmental and biological factors, influences the function and/ or stability of the autonomic nervous system and ultimately the function of our DNA and genes [2]. The level of genetic expression of the proteins (genotype) which we require to sustain our function declines and the rate at which these expressed proteins subsequently react (phenotype) also declines i.e. the ability of the body to cope with extreme events declines.There are two fundamentally significant biological issues at play: (i) the genetic ability to express proteins (ii) the body's physiological demand i.e. the phenotype or influence of the environment. In the case of diabetes, in particular type 2 diabetes, this is the regulation of Blood Glucose. The greater the level of hyperglycaemia the greater is the associated demand for insulin. The development of a medical condition occurs when the environmental demand exceeds the body's innate capacity [3] i.e. the prevailing supply and/or level of insulin is insufficient to metabolise the excess of blood glucose. By contrast, the lower the level of hypoglycaemia, which occurs in type 1 diabetes, the lower is the demand/need for insulin. If there is insufficient blood glucose the excess of highly reactive insulin will seek an alternative substrate and ultimately results in damage to the peripheral blood vessels e.g. in particular to the brain, eyes, legs and feet.The evidence suggests that this regulatory process is performed by the brain via the process of neuroregulation [4][5][6]. This is a best-fit process which takes into account the prevailing state of development or physiological damage to a part of the brain, degeneration or damage to an organ (or limb), and the prevailing inter-cellular environment i.e. the feedback of biochemical signals from the viscera. AbstractDespite the immense advances of medical research there remains a fundamental theo...

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Nature and Prevalence of Pain in Fabry Disease and Its Response to Enzyme Replacement Therapy—A Retrospective Analysis From the Fabry Outcome Survey

Abstract: Pain is one of the most prevalent symptoms in Fabry disease with onset early in childhood. ERT with agalsidase alfa significantly reduces pain in this debilitating disorder.

Cited by 122 publications

References 36 publications

Lysosomal storage diseases: Diagnostic confirmation and management of presymptomatic individuals

Lysosomal storage diseases: Diagnostic confirmation and management of presymptomatic individuals

Fabry Disease: Symptoms in Children and Teenagers

The Framework of a Mathematical Model of the Autonomic Nervous System and Physiological Systems: Using the Neuroregulation of Blood Glucose as an Example

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