Coma mixedematoso em paciente com neurofibromatose tipo 1: associação rara

Sasazawa, Denise Tieko; Tsukumo, Daniela Miti Lemos; Lalli, Cristina Alba

doi:10.1590/s0004-27302013000900012

Cited by 6 publications

(11 citation statements)

References 14 publications

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“…For instance, Nabi described a 30-year-old woman with the concomitant occurrence of goiter and NF-1 [26]. Sasazawa et al reported a 51-year-old patient with NF1 and HT who suffered a coma as a cause of myxedema [27].…”

Section: Resultsmentioning

confidence: 99%

Apoptosis and Cell Cycle Pathway-Focused Genes Expression Analysis in Patients with Different Forms of Thyroid Pathology

Bilous¹,

Pavlovych²,

Krynytska³

et al. 2020

Open Access Maced J Med Sci

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BACKGROUND: Thyroid hormones are key regulators of essential cellular processes including proliferation, differentiation, and finally apoptosis. AIM: The aim of study was to detect changes in the expression of apoptosis and cell cycle pathway-focused genes in patients with different forms of thyroid pathology. PATIENTS AND METHODS: 36 patients with thyroid pathology were enrolled in the study. We used the pathway-specific real-time PCR array (Neurotrophins and Receptors RT2 Profiler PCR Array, QIAGEN, Germany) to identify and verify apoptosis and cell cycle pathway-focused genes expression in patients with postoperative hypothyroidism, hypothyroidism as a result of autoimmune thyroiditis (AIT) and AIT with elevated serum an anti-thyroglobulin (anti-Tg) and anti-thyroid peroxidase (anti-TPO) antibodies. RESULTS: It was shown that patients with elevated serum anti-Tg and anti-TPO antibodies and with hypothyroidism resulting from AIT had a significantly lower expression of FAS, TGFB, TP53, TGFA, while the expression of CD40 was increased. The mRNA levels of BCL2 and BAX decreased in the patients with elevated serum anti-Tg and anti-TPO antibodies and increased in the patients with hypothyroidism resulting from AIT and postoperative hypothyroidism. The patients with hypothyroidism resulting from AIT and postoperative hypothyroidism had significantly lower expression of HSPB1. NF1 expression did not change in all groups of patients. CONCLUSION: The results of this study demonstrate that AIT and hypothyroidism affect the mRNA-level expression of apoptosis and cell cycle pathway-focused genes in gene specific manner and that these changes to gene expression can be responsible for the apoptosis signs and symptoms associated with thyroid pathology.

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Section: Resultsmentioning

confidence: 99%

Apoptosis and Cell Cycle Pathway-Focused Genes Expression Analysis in Patients with Different Forms of Thyroid Pathology

Bilous¹,

Pavlovych²,

Krynytska³

et al. 2020

Open Access Maced J Med Sci

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“…HT is rarely associated with NF1, and only five cases have been reported so far ( 3 , 9 , 15 , 16 , 17 ). Initially, Yalcin et al ( 3 ) described HT and vitiligo in a 20-year-old female patient diagnosed with NF1 and Noonan syndrome.…”

Section: Discussionmentioning

confidence: 99%

“…Nabi ( 9 ) described a 30-year-old woman with the concomitant occurrence of goitre and NF1. Sasazawa et al ( 16 ) reported a 51-year-old patient with NF1 and HT who suffered a coma as a cause of mixedema. Faraz et al ( 17 ) presented a 53-year-old woman with concomitant high blood pressure and NF1.…”

Section: Discussionmentioning

confidence: 99%

Endocrinological Evaluations of a Neurofibromatosis Type 1 Cohort: Is it Necessary to Evaluate Autoimmune Thyroiditis in Neurofibromatosis Type 1?

Güler¹,

Yeşil²,

Önal³

2017

Balkan Med J

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Background:Neurofibromatosis type 1 is an autosomal dominant neurocutaneous disorder in which the coexistence of autoimmune thyroiditis and thyroid gland tumours has been reported previously.Aims:To determine the thyroid function and autoimmune thyroid diseases in neurofibromatosis type 1 patients in order to identify the possible association between neurofibromatosis type 1 and thyroid diseases.Study Design:Case-control study.Methods:The study includes 78 consecutive patients diagnosed with neurofibromatosis type 1 between June 2010 and June 2014 and 50 healthy controls. Baseline demographic data were generated from patient examination record forms, including age, sex, height, and weight, as well as levels of free triiodothyronine, free thyroxine, thyroid-stimulating hormone, anti-thyroid peroxidase and anti-thyroglobulin levels.Results:Mean age, sex, and body mass index were similar in both groups (p>0.05). The mean levels of free triiodothyronine, free thyroxine, and thyroid-stimulating hormone were not statistically different between the neurofibromatosis type 1 and control groups. Similarly, no statistically significant difference was observed between the neurofibromatosis type 1 and control groups for anti-thyroid peroxidase and anti-thyroglobulin positivity (2.5% vs 0%, p>0.05).Conclusion:Screening for autoimmune thyroid disease and thyroid function seems to be unnecessary in patients with neurofibromatosis type 1.

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“…O coma mixedematoso (CM) é uma emergência endocrinólogica rara e potencialmente fatal. É decorrente do tratamento inadequado e persistente do hipotireoidismo, a ponto de os mecanismos de compensação não conseguirem mais manter a homeostase diante de situações de estresse como infecções de estresse como infecções, cirurgias, infarto agudo do miocárdio ou frio extremo 1 . Caracteriza-se por baixos níveis dos hormônios triiodotironina (T3) e tiroxina (T4), tanto total quando na forma livre, enquanto que os níveis do hormônio estimulante da tireoide (TSH) variam de acordo com o tipo de hipotireoidismoprimário ou secundário.…”

Section: Introductionunclassified

“…Apresenta-se como uma doença sistêmica cuja evolução está estritamente relacionada ao seu diagnóstico e tratamento precoces. Ocorre mais frequentemente em mulheres e idosos, podendo estar associado a alguns fatores precipitantes, como frio, trauma e infecção 1 .…”

Section: Introductionunclassified

Coma Mixedematoso em paciente com síndrome do Eutireoideo doente: um relato de caso / Mixedematosus coma in a patient with Eutireoideous syndrome: a case report

Dantas¹,

Silva²,

Figueiredo³

et al. 2021

Braz. J. Hea. Rev.

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RESUMOComa Mixedematoso (CM) é uma emergência endocrinológica decorrente do tratamento inadequado do hipotireoidismo, onde o TSH encontra-se bastante elevado, T4 total e livre reduzidos e T3 normal/baixo. Síndrome do Eutireoideo Doente (SED) caracteriza-se pela redução do T3 livre e aumento de sua forma reversa e inativa (rT3). Nesta situação, o TSH pode estar baixo ou alto, dependendo da fase da doença. Formulamos a hipótese que a associação dessas duas condições pode mascarar o diagnóstico laboratorial do CM. Mulher, 62 anos, admitida em UTI por infecção respiratória grave, evoluiu com hiponatremia refratária e rebaixamento de consciência. Apresentava história de Síndrome de Sjögren e Tireoidite de Hashimoto com hipotireoidismo há mais de 10 anos. Em uso de levotiroxina 75mcg/dia desde a admissão. Exame físico: estado geral grave, traqueostomizada, bradipneica (FR: 8irpm), com anasarca, edema palpebral e conjuntival bilaterais, macroglossia, temperatura axilar 35,7ºC e escala de coma de Glasgow 5/15. Ritmo cardíaco regular, bulhas hipofonéticas e frequência cardíaca de 60bpm em vigência de infecção. Murmúrio vesicular presente, com estertores creptantes difusos em bases. Abdome distendido, ruídos hidroaéreos lentificados. Exames laboratoriais: leucocitose com desvio à esquerda, TSH:12mUl/L; T4L:0,8ng/dL; T3:50ng/dL; rT3:53g/dL; sódio sérico entre 119-132mEq/L; potássio:4,1mEq/L; CPK:500U/L. Radiografia de tórax: infiltração pulmonar bilateral; RNM de crânio: lesões microangiopáticas. Três semanas após início da reposição de altas doses de levotiroxina (600mcg/dia), evoluiu com melhora do quadro, reversão da hiponatremia e resolução da infecção pulmonar. Relatamos um caso de CM mascarado laboratorialmente pela possível associação com SED, que pode dificultar o diagnóstico de uma condição potencialmente fatal.

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Coma mixedematoso em paciente com neurofibromatose tipo 1: associação rara

Cited by 6 publications

References 14 publications

Apoptosis and Cell Cycle Pathway-Focused Genes Expression Analysis in Patients with Different Forms of Thyroid Pathology

Apoptosis and Cell Cycle Pathway-Focused Genes Expression Analysis in Patients with Different Forms of Thyroid Pathology

Endocrinological Evaluations of a Neurofibromatosis Type 1 Cohort: Is it Necessary to Evaluate Autoimmune Thyroiditis in Neurofibromatosis Type 1?

Coma Mixedematoso em paciente com síndrome do Eutireoideo doente: um relato de caso / Mixedematosus coma in a patient with Eutireoideous syndrome: a case report

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