Endocrine and metabolic disorders in patients with Gaucher disease type 1: a review

Abstract

BackgroundGaucher disease (GD) is one of the most prevalent lysosomal storage diseases and is associated with hormonal and metabolic abnormalities, including nutritional status disorders, hypermetabolic state with high resting energy expenditures, peripheral insulin resistance, hypoadiponectinaemia, leptin and ghrelin impairments, hypolipidaemia, linear growth deceleration and growth hormone deficiency, delayed puberty, hypocalcaemia and vitamin D deficiency. Specific treatments for GD such as enzyme replacement therapy and substrate reduction therapy display significant effects on the metabolic profile of GD patients.Main body of the abstractHormonal and metabolic disturbances observed in both adult and paediatric patients with Gaucher disease type 1 (GD1) are discussed in this review. The PubMed database was used to identify articles on endocrine and metabolic disorders in GD1. GD1 appears to facilitate the development of disorders of nutrition, glucose metabolism and vitamin D insufficiency. Metabolic and hormonal diseases may have a significant impact on the course of the underlying disease and patient quality of life.ConclusionsConditions relating to hormones and metabolism can be wide-ranging in GD1. Obtained findings were intrinsic to GD either as a deleterious process or a compensatory response and some changes detected may represent co-morbidities. Actively seeking and diagnosing endocrine and metabolic disorders are strongly recommended in GD1 patients to optimize healthcare.

Selective screening for lysosomal storage disorders in a large cohort of minorities of African descent shows high prevalence rates and novel variants

“…This invariably causes significant delays in diagnosis, often up to 10‐20 years with at least three different specialist visits. African‐Americans with high incidences of cardiovascular disease, lung scarring, and chronic kidney disease requiring dialysis may also possess hormone and metabolic imbalances; conditions that correspond to GD, PD, and FD clinical presentations 16,23‐25 . People of African ancestry are known to be genetically heterogeneous and have traditionally been excluded in large research cohorts when investigating various diseases 20,21,26 and thus in the age of precision medicine, if not studied, entire groups of individuals will be excluded from targeted treatment development.…”

“…African-Americans with high incidences of cardiovascular disease, lung scarring, and chronic kidney disease requiring dialysis may also possess hormone and metabolic imbalances; conditions that correspond to GD, PD, and FD clinical presentations. 16,[23][24][25] People of African ancestry are known to be genetically heterogeneous and have traditionally been excluded in large research cohorts when investigating various diseases 20,21,26 and thus in the age of precision medicine, if not studied, entire groups of individuals will be excluded from targeted treatment development. Because of the heterogeneity observed in people of African ancestry, their inclusion in studies such as this will lead to the identification of novel allelic polymorphisms that expand our current knowledge.…”

“…This provides valuable information on birth prevalence, but there is still an unmet need for population screening and for identifying patients with reversible tissue damage. Diagnostic challenges are further exacerbated in minority populations due to the (a) the commonness of the wide variety of symptoms associated with LSDs 16,[23][24][25] and (b) existing health care disparities in minority communities.…”

Reconstruction of the Cytokine Signaling in Lysosomal Storage Diseases by Literature Mining and Network Analysis

“…Moreover, text-mining identified a study indicating that the expression of glucocerebrosidase gene is affected by JUN ( Moran et al, 1997 ), a TF that in our network regulates IL10 , IL1B , CCL2 , TNF , and CXCL12 . Finally, we identified several studies reporting polymorphisms in the VDR gene possibly associated with GD phenotypes ( Vlieger et al, 2002 ; Greenwood et al, 2010a , b ; Lieblich et al, 2011 ; Zhang et al, 2012 ; Mistry et al, 2013 ; Gervas-Arruga et al, 2015 ; Zimmermann et al, 2018 ; Kałużna et al, 2019 ).…”

Fratura Mandibular Pós- Implante Dentário

“…Classifica-se em três tipos levando em consideração a presença ou ausência de manifestações neurológicas. A classificação dos tipos clínicos é importante para estabelecer um prognóstico e realizar um aconselhamento genético juntamente com um manejo adequado(KAŁUŻNA et al, 2019).O tipo 1 ou não neuropático corresponde a 94% dos casos, afeta crianças e adultos e apresenta uma grande variação de sintomatologias, porém com ausência de…”