scholarly journals Síndrome de Turner, Tireoidite de Hashimoto e doença de Crohn em irmãs: relato de caso

2017 ◽  
Vol 4 (4) ◽  
pp. 29
Author(s):  
Carlos Alberto Rodrigues Junior ◽  
Lara Luiz da Silveira Duarte ◽  
Marcelo Henrique Menezes ◽  
Rodrigo Cesar Menezes ◽  
Ana Paula de Santana ◽  
...  

A Síndrome de Turner é caracterizada citogeneticamente pela presença de um cromossomo X e perda total ou parcial do segundo cromossomo sexual, ocorrendo em aproximadamente 1:2.130 nascidos vivos do sexo feminino. A Tireoidite de Hashimoto é um distúrbio autoimune decorrente de resposta imune anormal à glândula tireoide, tanto do ponto de vista humoral como celular. A doença de Crohn é uma doença crônica recidivante que afeta todas as partes do tubo digestivo, sendo multifatorial, em que fatores de ordem genética, imunológica e ambientais têm uma relevância preponderante no início e na perpetuação da lesão tecidual imunomediada. O objetivo deste trabalho foi relatar o caso de três pacientes de uma mesma família. Caso 1, primeira gemelar (dizigótica), 8 anos de idade, sexo feminino, com diagnóstico de Tireoidite de Hashimoto. Caso 2 (segunda gemelar), sexo feminino, com o diagnóstico de Síndrome de Turner. Caso 3 (primogênita), sexo feminino, com diagnóstico de Doença de Crohn.  Duas filhas de um casal hígido manifestaram doenças autoimunes, as quais têm incidência aumentada na síndrome de Turner. Doenças endócrinas autoimunes possuem mecanismos complexos com a participação de vários fatores, como a susceptibilidade genética, eventos ambientais e resposta autoimune, porém, neste caso, não se encontrou história familiar positiva além da geração estudada. Outros estudos familiares, como este que se propõe, com múltiplos membros acometidos, poderão identificar associações cada vez mais consistentes entre essas doenças, além daquelas ainda não suspeitadas.   Palavras-chave: Síndrome de Turner, Tireoidite de Hashimoto, Doença de Crohn, Hereditariedade. ABSTRACT Turner syndrome is characterized cytogenetically by the presence of an X chromosome and total or partial loss of the second sex chromosome, occurring in approximately 1:2,130 live female births. Hashimoto's Thyroiditis is an autoimmune disorder resulting from an abnormal immune response to the thyroid gland, both from a humoral and cellular point of view. Crohn's disease is a chronic recurrent disease that affects all parts of the digestive tract, being multifactorial, in which genetic, immunological and environmental factors have a preponderant relevance at the beginning and the perpetuation of immune-mediated tissue injury. The objective of this study was to report the case of three patients from the same family. Case 1, first twin (dizygotic), 8 years old, female, with diagnosis of Hashimoto's Thyroiditis. Case 2 (second twin), female, with the diagnosis of Turner Syndrome. Case 3 (first-born), female, with diagnosis of Crohn's Disease. Two daughters of a healthy couple have manifested autoimmune diseases, which have an increased incidence in Turner syndrome. Autoimmune endocrine diseases have complex mechanisms with the participation of several factors, such as genetic susceptibility, environmental events and autoimmune response, but in this case, no positive family history was found beyond the generation studied. Other family studies, such as this one proposed, with multiple affected members, will be able to identify increasingly consistent associations between these diseases, in addition to those not yet suspected. Keywords: Turner syndrome, Hashimoto's thyroiditis, Crohn's disease, Heredity.

1998 ◽  
Vol 26 (2) ◽  
pp. 117-120 ◽  
Author(s):  
Samir A. Shah ◽  
Mark A. Peppercorn ◽  
Johanna A. Pallotta

Author(s):  
Edda Russo ◽  
Francesco Giudici ◽  
Federica Ricci ◽  
Stefano Scaringi ◽  
Giulia Nannini ◽  
...  

Abstract Background and aims Crohn’s Disease (CD) pathogenesis is still unclear. Disorders in the mucosal immunoregulation and its crosstalk with the microbiota may represent an important component in tissue injury. We aimed to characterize the molecular immune response distribution within the ileal layers and to evaluate the correlated microbiota in pathological/healthy settings comparing first surgery/relapse clinical conditions. Methods We enrolled 12 CD patients. A comprehensive analysis of ileal mucosa, submucosa and serosa broad-spectrum cytokines’ panel was performed through a multiplex approach. In addition, ileal microbiota composition was assessed through Next Generation Sequencing. Results We observed a distinct profile (of IL1-α, IL-1β, IL-4, IL-8, ICAM-1, E-Selectin, P-Selectin, IP-10, IL 6, and IL 18) across the CD vs healthy ileal layers; and a different distribution of IFN-γ, P-Selectin, IL-27 and IL-21 in first surgery vs relapse patients. In addition, the phylum Tenericutes, the family of Ruminococcaceae, and the genus Mesoplasma and Mycoplasma were significantly enriched in pathological setting. Significant microbiota differences were observed between relapse vs first surgery patients regarding the class Bacteroidia, the genus of Prevotella, Flavobacterium, Tepidimonas and Escherichia/Shigella. Finally, the abundance of the genus Mycoplasma was positively correlated with IL-18. Conclusions We describe a dissimilarity of cytokines’ distribution and microbiota composition within the CD and the adjacent healthy ileal tissue layers and between first operation and surgical relapse. Our results give a potential insight into the dynamics of the gut microbiota-immune axis in CD patients, leading to new biomarkers’ detection.


2014 ◽  
Vol 51 (2) ◽  
pp. 90-96 ◽  
Author(s):  
Siu-tong LAW ◽  
Kin Kong LI

ContextData from Asian populations about gender-related differences in Crohn’s disease are few.ObjectivesThis study was to analyze the clinical characteristics between women and men affected by Crohn’s disease.MethodsThis was a retrospective cohort study to analyze consecutive Crohn’s disease patients from Jan 2000 to Dec 2012. Clinical and phenotypic characteristics and treatment outcomes were evaluated.Results79 patients (55 male and two of them with positive family history) were diagnosed with Crohn’s disease. Ileocolonic disease and inflammatory lesion was the most dominant site of involvement and disease behavior respectively in both men and women. Apart from higher frequency of nausea (45.83 vs 23.64%, P 0.024) and lower body mass index (19.44 vs 22.03 kg/m2, P 0.003) reported in women, no significant gender-related differences in clinical characteristics were observed. Women were more associated with delay use of immunosuppressive therapy (12 vs 36 months, P = 0.028), particularly for those aged less than 40 years old (85 vs 62.6%,P = 0.023). Cox proportional hazard regression analysis revealed that active smoking (HR, 4.679; 95% CI, 1.03-21.18) and delayed use of immunosuppressive therapy (HR, 4.13; 95% CI, 1.01-16.88) were only independent risk factors associated with increased risk of complications.ConclusionsThere were no significant gender-specific differences in clinical and phenotypic characteristics between male and female Crohn’s disease patients. Smoking history and delay use of immunosuppressive therapy were associated with higher risk of complications.


2021 ◽  
Vol 12 (4) ◽  
pp. 9-11
Author(s):  
Pooja J Kotian ◽  
Seetha P Devi

Hashimoto's thyroiditis is chronic inflammation of the thyroid gland due to the formation of autoantibodies. It is an autoimmune disorder that would lead to hypothyroidism. Failures of host defense do occur, however, and fall into three broad categories: immune deficiencies, autoimmunity and hypersensitivities. Ayurveda has a unique approach in treating the auto immune disorders through Shodhana and Rasayana Therapies. Due to Nidana Sevana, Kapha - pitta vata dushti takes place leading to Jatharagni Vaishamya and Ama Utpatti. This causes Asamyak Ahara Pachana, Rasavaha Srotodushti, Rasa Dhatwagni Vaishamya leads to Uttarottara dhatwagni and Dhatu Vaishamya. When Agni becomes too low, metabolism is affected. Shodhana karma has a great efficacy in Sroto-shodhana and in turn it corrects the functioning of Jatharagni, dhatwagni Srotas and Doshas. The present case study includes a female patient of 26 years age suffering from Hashimoto's thyroiditis complaints of gradual increase in size of swelling over neck for 3 years She was treated with Shodhana and Shamana Aushadhis for 3 months and found effective in reducing the levels of antibodies.


2007 ◽  
Vol 36 (3) ◽  
pp. 247-257 ◽  
Author(s):  
Janusz Mysliwiec ◽  
Magdalena Oklota ◽  
Agnieszka Nikolajuk ◽  
Dariusz Waligorski ◽  
Maria Gorska

1994 ◽  
Vol 8 (6) ◽  
pp. 383-387
Author(s):  
Fergus Shanahan ◽  
Gerald C O'’Sullivan ◽  
J Kevin Collins

Inflammatory bowel disease involves an interaction between genetic susceptibility factors and environmental triggers, and the intestinal injury is mediated by the host immunoinflammatory response. Identification of the mechanisms and mediators that contribute to the tissue injury has provided a sound rationale for the therapeutic use of immunosuppressive and immunomodulatory agents. The efficacy of traditional immunosuppressive drugs, such as the purine analogues in both Crohn’s disease and ulcerative colitis, is well established. The major limitation of the use of these drugs is the delayed clinical response associated with their use. This has prompted an evaluation of other immunosuppressivcs, such as cyclosporine and related drugs, that have a more rapid onset of action. Convincing data indicate a distinct role for cyclosporine in certain patients with acute severe ulcerative colitis. However, despite early promising results with cyclosporine in Crohn’s disease, recent results have been less encouraging. There is also uncertainty about the exact clinical role of cyclosporine because of concerns regarding long term toxicity. At present, many investigators regard cyclosporine as an interim measure for acutely ill patients. The challenge that remains is the development of novel immunomodulatory strategies that are specific for the mucosal immune system and that are based on recent advances in our understanding of the pathogenesis of mucosal inflammation.


2014 ◽  
Vol 30 (10) ◽  
pp. 694-696 ◽  
Author(s):  
Wen-Heng Zeng ◽  
Jiao-Jun Xu ◽  
Min-Yue Jia ◽  
Yue-Zhong Ren

2021 ◽  
Vol 6 (3) ◽  
pp. 204-206
Author(s):  
Garima Shah ◽  
Shubham Sharma ◽  
Bikram Shah

Hypothyroidism is among the common clinical conditions which are encountered in the medicine OPD. An autoimmune disorder called Hashimoto’s thyroiditis is a common cause for hypothyroidism followed by over response to hyperthyroidism treatment, radiation therapy, medications, congenital disease etc. Patients can present with sensitivity to cold, weight gain, constipation, menstrual abnormalities, and slow mentation with irritability, dry skin, hair loss, and fatigue. Rarely, uncontrolled hypothyroidism can present as pericardial effusion, pleural effusion and ascites. Ascites as the feature of hypothyroidism is uncommon and only less than four percent of patients with hypothyroidism /develop ascites.As it is rarely presented as ascites so its diagnosis is delayed but once it is diagnosed, treatment leads to clinical improvement.: A 20-year-old female presented to medicine OPD with non- tender abdominal distension, vomiting. She was a known case of Hashimoto's thyroiditis an autoimmune disorder; however, she was not compliant to thyroid medication. All necessary investigations were carried out to rule out the cause for ascites. With all the negative reports including imaging and supportive fluid cytology we attributed the symptoms to uncontrolled hypothyroidism as the patient was non-compliant to the thyroid medications. Also the picture of macrocytic anaemia in our patient supported the diagnosis. She was started on levothyroxine and was counselled. On a follow-up visit there was dramatic improvement of all the symptoms including ascites and her TSH was normal-2.017. Ascites as a symptom of hypothyroidism is rare and its pathophysiology is not fully understood however there are few theories and studies in the past which do explain ascites as the manifestation of hypothyroidism. Severe uncontrolled hypothyroidism though uncommon but can cause ascites. Being a reversible cause of ascites, it becomes important for clinicians to take hypothyroidism as one of the differential diagnosis for ascites. Our case supports the need of taking hypothyroidism as one of the cause, as it is easily treatable and patient can show dramatic improvement.


2020 ◽  
Vol 6 (8) ◽  
pp. 466-471
Author(s):  
Dr. Vinodhini Asokan ◽  
◽  
Dr. Koshalya Rajendran ◽  
Dr. Muthu Sudalaimuthu ◽  
◽  
...  

Background: Hashimoto’s thyroiditis is an autoimmune disorder of thyroid gland. It is one of thecommon causes of hypothyroidism and is common in females. Generally, Hashimoto’s thyroiditisclinically presents as diffuse enlargement of the thyroid and nodular lesions are uncommon. But fewrecent studies from South India have shown that Hashimoto’s frequently presents as nodularenlargement of the thyroid. Such lesions can be easily confused with nodular goitre. Objectivesand Aim: Aim of the study is to study the clinicopathological features of Hashimoto’s thyroiditis andto estimate the frequency of nodular lesions in Hashimoto’s thyroiditis in a tertiary care healthcentre in coastal South India. Materials and Methods: The present study was done retrospectivelyon patients diagnosed as Hashimoto’s thyroiditis by fine-needle aspiration cytology during the periodJune 2017 to June 2020. Their clinical details, clinical examination findings including diffuse/nodularnature of the swelling, thyroid hormone status and ultrasound findings were studied. Results: In thepresent study, 102 cases of Hashimoto’s thyroiditis were included, which includes 91 females and 11males. Patients age ranged from 15 to 63 years with a peak in the fourth decade. Fifty-five cases(53.9%) were hypothyroid and 43 (42.2%) were euthyroid. Fifty cases (49%) presented as nodularlesion out of which 47 cases had multiple nodules. Conclusion: Nodular enlargement of the thyroidis a common finding in Hashimoto’s thyroiditis patients. Such cases should not be mistaken fornodular goitre as there is a risk of malignancy in Hashimoto’s thyroiditis.


Sign in / Sign up

Export Citation Format

Share Document