Received February 21, 2013; Accepted March 22, 2013; Published March 25, 2013
Citation: Liu L, Liu B, Zhu LL (2013) Different Performance for a Chinese Case of Genetic Tendency Sarcoidosis. J Bioanal Biomed S3:003. doi: 10.4172/1948-593X.S3-003
Copyright: © 2013 Liu L, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
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Sarcoidosis is a common multi-granulomatous disease that is characterized by the formation of non-caseating epithelioid cell granulomas in various tissues and organs. The first case of sarcoidosis described in literature was by Hutchinson in 1875 year . The sarcoidosis mainly affects the lungs, lymph nodes, liver, and spleen, and less frequently the eyes, bones and skin [1-3]. Sarcoidosis have a tendency of genetic disease, in the USA, there is significant racial variation in the incidence rate, with 10-14 cases per 100,000 for Caucasians and 35.5-64 cases per 100,000 for african-americans , the case report becomes a very rare finding, especially in Chinese, furthermore, the etiology has not been confirmed. There is a slightly higher incidence in females .
We report the Chinese case of a 55-year-old (60 Kg) woman who had had chronic productive cough with blood-tinged sputum and exertionaldyspnea for one year. She was a lifelong nonsmoker, currently unemployed, and occasionally homeless. Nothing to be declared in her past medical history. Her son (30-year-old) was a patient with pulmonary sarcoidosis in family history, however, no symptom and sign were revealed in her son, sarcoidosis was discovered by chest computed tomography (CT) and confirmed by bronchoscope with biopsy tissue pathology 6 months, and self-healing happened by chest CT in her son 3 monthes ago.
On examination, she was ill-appearing but in no acute distress. Her axillaries temperature was 36.5°C, vital sign was 130/80 mm Hg with a normal pulse of 80 bpm, and oxygen saturation SpO2:95%. Respiratory organ auscultation revealed crackles over the lower right lung.
On laboratory testing, the patient had a standard level white blood cell count of 8,300 cells/uL, the hemoglobin (Hb) level was 133 g/L. The erythrocyte sedimentation rate (ERS) was 25 mm after the primary hour. Hepatitis virus was negative. Nothing was abnormal in liver and renal function. Nothing was found about autoantibody examination and rheumatic test.
There was no lymphadenopathy observed in general examination, however, chest CT demonstrated right fissure prominence, and hilar lymphadenopathy, and bilateral lower lung lobe infiltration pacification (Figure 1). In addition, bronchoscope biopsy was conducted as a diagnostic approach.
Pulmonary function testing after remission of the productive cough (one day) showed a restrictive pattern with a Forced Vital Capacity (FVC) of 54% predicted, a forced expiratory volume in one second (FEV1) of 56% predicted, and an FEV1 / FVC ratio of 86%. The Total Lung Capacity (TLC) was 79% of predicted. There was reduction of the diffusion respiratory organ capacity for carbon monoxide (CO) to 56% of predicted. Fiber optic bronchoscope disclosed a partial extra luminal compression of the trachea and irregular distribution (scattered and beaded) of nodules in lobe and segmental bronchial walls (Figure 2). No evidence of maligancy, vasculitis, or alveolar wall necrosis were found on biopsy, except tracheal mucosa chronic inflammation and non-caseating epitheloid cell granulomas formation with biopsy tissue pathology (Figure 3). The microscopic anatomy results from the bronchoalveolar lavage fluid (BALF) showed no malignancy. The T4/T8 ratio on the BALF was 1.9, while the blood T4/T8 ratio was 1.8. A microbiology culture of the BALF was nothing. The smear for impervious bacilli was negative, and cultures for mycobacterium remained negative after VI weeks.
According to Miller et al. , diagnosis of stage II of sarcoidosis was suggested, she was informed and gave a written consent for side effect of the predinsolong, she was treated with predinsolong (40 mg/ day). Follow-up chest CT also showed normal pulmonary hilum, and remission of irregular distribution of nodules and bilateral lower lung lobe infiltration pacification after treatment of 2 weeks, and disappearing symptom and crackles over the lower right lung was found by examination as well (Figure 4). Further follow-up is going on.
The etiology of sarcoidosis is not well understood. There is a genetic predisposition suggested by the presence of familial clusters in sarcoidosis . There are no specific tests for sarcoidosis, diagnosis of sarcoidosis is mainly based on clinical characteristics [1,3], as well as chest imaging examination and the typical non-caseating granulomas which contain epithelioid macrophages surrounded by lymphocytes, exclusion of other non-caseating granulomas forming conditions. In sarcoidosis immunopathogenesis, the system undergoes a reactivity change. Primary features are a reduction in circulation CD4+ lymphocytes, while their numbers in tissue increase, which is associated with a remarked increase in tissue cytokine production, particularly interferon-γ, interleukin-2 (IL-2), and so on . The T-helper 1(Th- 1) cytokine profile recruits macrophages, eventually forming a granulomatous reaction . The production of inhibitory cytokines by macrophages appears to interfere with the normal immune response. Girard et al. reported five cases and reviewed 65 additional cases of opportunistic infections associated with sarcoidosis . Observations have suggested a pathogenetic role of Gram-negative infections in sarcoidosis by driving and interleukin-18 response as another feature of the Th-1 pathway . The presented case demonstrates that sarcoidosis may, in rare cases, report as a tendency of genetic disease in Chinese. There are different performances for this case of genetic tendency sarcoidosis, the patient need be treated and the son was selfhealing.
We thank Dr. Wei Zhang for her helpful advice on pathologic assessment.