Síndrome de Wolfram Online (Wolfram Syndrome)
– ¨A Síndrome de Wolfram (SW) foi descrita em 1938 pela primeira vez por Wolfram e Wagener. Os pesquisadores a classificaram como uma síndrome de caráter hereditário caracterizada pela presença de diabetes mellitus e atrofia óptica, ambas adquiridas no início da vida. As descrições subsequentes adicionaram diabetes insipidus e surdez à síndrome, as quais se desenvolvem em aproximadamente 73 e 62% dos doentes, respectivamente. Diante disso, patologia também foi nomeada DIDMOAD, iniciais dos principais achados clínicos, sendo eles diabetes insipidus, diabetes mellitus, atrofia óptica e surdez. A atrofia óptica e diabetes mellitus são considerados critérios diagnósticos mínimos. Na síndrome, a perda da acuidade visual corriqueiramente se define como uma perda simétrica de alta frequência, com uma progressão degenerativa relativamente lenta que surge na segunda ou terceira década de vida. Já o diabetes mellitus evolui lentamente com menor número de complicações, como alterações microvasculares, cetoacidose diabética e oscilação da glicemia, quando comparado a pacientes portadores de diabetes tipo 1 por outra etiologia. A perda auditiva tende a ser lentamente progressiva e afeta principalmente as altas frequências, entre 250 e 2000 Hz, resultando em diagnósticos tardios.A síndrome se traduz em uma desregulação na homeostasia do cálcio no Retículo Endoplasmático (RE), o qual realiza o armazenamento desse íon e é capaz de identificar conformações proteicas anormais e encaminhá-las para a degradação. Entretanto, por mutações genéticas autossômicas recessivas, o RE perde essa capacidade e passa a acumular proteínas aberrantes, o que desencadeia uma resposta ao estresse, levando à apoptose de células neuronais e células beta pancreáticas, sendo responsável pelas alterações clínicas vistas nessa síndrome. Portanto, a SW acaba integrando um aspecto mitocondrial secundário.¨
■ Síndrome de Wolfram – Diagnóstico clínico de condição rara multissistêmica
Silva, Larissa Braga da, Santos, Beatriz Iris dos and Machado, Roberto Augusto Fernandes
Rev. bras.oftalmol., Dez 2019, vol.78, no.6, p.409-412
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0034-72802019000600409&lng=en&nrm=iso
■ Wolfram syndrome, a rare neurodegenerative disease: from pathogenesis to future treatment perspetives
M T Pallotta, G Tascini, R Crispoldi et al
Journal of Translational Medicine 2019, vol 17, article number: 238
https://translational-medicine.biomedcentral.com/articles/10.1186/s12967-019-1993-1
■ Wolfram syndromme: a case report and review of clinical manifestations, genetics pathophysiology, and potential therapies
N B Topping, J M McMillan, P Y B Au et al
Case Reports in Endocrinology 2018, , Article ID 9412676, 8 pages
■ Developmental hyopomyelinatin in Wolfram syndrome: new insignts from neuroimaging and gene expression. Analysis
Amjad Samara, Rachel Rahn, Olga Neyman, et al
Orphanet J Rare Dis. 2019; 14: 279
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6889680/
■ A cost of illness study evaluating the burden of Wolfram syndrome in the United Kingdom
Sana Eljamel, Wrik Ghosh, Sachin De Stone, Annabel Griffiths, Timothy Barrett, Richard Thompson
Orphanet J Rare Dis. 2019; 14: 185.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6670179/
■ Sleep disturbances in Wolfram syndrome
Amy Licis, Gabriel Davis, Sarah A. Eisenstein et al
Orphanet J Rare Dis. 2019; 14: 188
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6679489/
■ Evidence for alterated neurodevelopment and neurodegeneration in Wolfram syndrome using longidunial morphometry
Heather M. Lugar, Jonathan M. Koller, Jerrel Rutlin, et al
Sci Rep. 2019; 9: 6010.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6461605/
■ Wolfram syndrome: MAMs´s connection?
B Delprat, T Maurice, c Delettre
Cell Death & Disease 2018, vol 364
https://www.nature.com/articles/s41419-018-0406-3
■ Longitudinal hearing loss in Wolfram syndrome
Roanne Karzon, Anagha Narayanan, Ling Chen et al
Orphanet J Rare Dis. 2018; 13: 102
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6020390/
■ Retinal thickness as a marker of disease progression in longitudinal observation of patients with Wolfram syndrome
Agnieszka Zmyslowska, Wojciech Fendler, Arleta Waszczykowska, Anna Niwald, Maciej Borowiec, Piotr Jurowski, Wojciech Mlynarski
Acta Diabetol. 2017; 54(11): 1019–1024
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3931392/
■ Monogenic diabetes syndromes: locus-specific databases for Alström, Wolfram, and thiamine-responsive megaloblastic anemia
Dewi Astuti, Ataf Sabir, Piers Fulton, et al
Hum Mutat. 2017 Jul; 38(7): 764–777.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5535005/
■ A novel CISD2 mutation associated with a classical Wolfram syndrome phenotype alters Ca2 homeostasis and ER-mitochondria interactions
Cécile Rouzier, David Moore, Cécile Delorme et al
Hum Mol Genet. 2017 May 1; 26(9): 1599–1611.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5411739/
■ Clinical and molecular gentic analysis in three children with Wolfram syndrome: a novel WFS1 mutation (c.2534T>A)
Gamze Çelmeli, Doğa Türkkahraman, Yusuf Çürek, Jayne Houghton, Sema Akçurin, İffet Bircan
J Clin Res Pediatr Endocrinol. 2017 Mar; 9(1): 80–84.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5363171/
■ Wolfram syndrome: diagnosis, management, and treatment
Fumihiko Urano
Curr Diab Rep. 2016; 16: 6
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4705145/
■ Role of mitochondrial dynamics in neuronal development: mechanism for Wolfram syndrome
Michal Cagalinec, Mailis Liiv, Zuzana Hodurova et al
PLoS Biol. 2016 Jul; 14(7): e1002511
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4951053/
■ Glycemic variability in patients with Wolfram syndrome is lower than in type 1 diabetes
- Zmyslowska, W. Fendler, A. Szadkowska, M. Borowiec, M. Mysliwiec, A. Baranowska-Jazwiecka, M. Buraczewska, M. Fulmanska-Anders, B. Mianowska, I. Pietrzak, D. Rzeznik, W. Mlynarski
Acta Diabetol. 2015; 52(6): 1057–1062
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4628085/
■ Association of optic atrophy and type 1 diabetes: clinical hallmarks for the diagnosis of Wolfram syndrome.
Pedroso, José Luiz et al.
Arq. Neuro-Psiquiatr., May 2015, vol.73, no.5, p.466-468
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2015000500017&lng=en&nrm=iso
■ Ophthalmologic correlates of diseases severity in children and adolescentes with Wolfram syndrome
James Hoekel, Smith Ann Chisholm, Amal Al-Lozi, Tamara Hershey, Lawrence Tychsen
J AAPOS 2015 Oct 21.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4476046/
■ B-cell dysfunction due to increased ER stress in a stem cell model of Wolfram syndrome
Linshan Shang, Haiqing Hua, Kylie Foo, Hector Martinez, Kazuhisa Watanabe, Matthew Zimmer, David J. Kahler, Matthew Freeby, Wendy Chung, Charles LeDuc, Robin Goland, Rudolph L. Leibel, Dieter Egli
Diabetes. 2014 Mar; 63(3): 923–933
■ A calcium-dependent protease as a potential therapeutic target for Wolfram syndrome
Simin Lu, Kohsuke Kanekura, Takashi Hara, et al
Proc Natl Acad Sci U S A. 2014 Dec 9; 111(49): E5292–E5301
https://www.pnas.org/content/111/49/E5292
■ Una familia con síndrome de Wolfram
Esteban Bueno, Gema et al.
Rev Clin Med Fam, Feb 2013, vol.6, no.1, p.54-57.
http://scielo.isciii.es/scielo.php?script=sci_arttext&pid=S1699-695X2013000100011&lng=es&nrm=iso
■ Phenotypic characteristics of early Wolfram syndrome
Bess A Marshall, M Alan Permutt, Alexander R Paciorkowski, et al
J Rare Dis. 2013; 8: 64
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5643352/
■ Early brain vulnerability in Wolfram syndrome
Tamara Hershey, Heather M. Lugar, Joshua S. Shimony, et al
PLoS One. 2012; 7(7): e40604
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3394712/
■ Diabetes and neurodegeneration in Wolfram syndrome: a multicenter study of phenotype and genotype
Julia Rohayem, Christian Ehlers, Bärbel Wiedemann, et al
the Wolfram Syndrome Diabetes Writing Group
Diabetes Care. 2011 Jul; 34(7): 1503–1510.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3120194/
■ Wolfram syndrome presenting marked brain MR imaging abnormalities with feww neurologic abnormalitis
S Ito, R Sabakibara, T Hattori
American Journal of Neuroradiology February 2007, 28 (2) 305-306;
http://www.ajnr.org/content/28/2/305
■ Síndrome de Wolfram: da definição às bases moleculares.
Ribeiro, Maria Regina F. et al.
Arq Bras Endocrinol Metab, Out 2006, vol.50, no.5, p.839-844
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27302006000500003&lng=en&nrm=iso
■ Síndrome de Wolfram: relato de caso
Fontes, Bruno Machado et al.
Arq. Bras. Oftalmol., Dez 2004, vol.67, no.6, p.961-964
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27492004000600023&lng=en&nrm=iso
■ Mutations in the Wolfram syndrome type 1 gene (WFS1) define a clincal entity of dominant low-frequency sensorineural hearing loss
M M Lesperance, J W Hall III, t B San Agustin, S M Leal
Arc Otolaryngol Head Neck Surg 2003, vol 129 (4): 411-420
https://jamanetwork.com/journals/jamaotolaryngology/fullarticle/483816
■ Relato de um paciente brasileiro com síndrome de Wolfram
Zen, Paulo R.G. et al.
- Pediatr. (Rio J.), Dez 2002, vol.78, no.6, p.529-532
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0021-75572002000600015&lng=en&nrm=iso
■ Dr Paulo Fernando Leite
Cardiologia/Prevenção Cardiovascular
Estratificação de Risco Cardiovascular
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Email: pfleite1873@gmail.com
Data: Fev 2020