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Case Report
Tuberous sclerosis, deep vein thrombosis and lack of C and S proteins: A case report
Seyed Seifollah Beladi-Mousavi
1, Abbasali Zeraati
2, Farzaneh Sharifipour
2*, Masih Naghibi
2, Farnaz Kalani
2, Sara Moussavinik
2, Marzieh Beladi-Mousavi
31 1Department of Internal Medicine, Faculty of Medicine, Jundishapour University of Medical Sciences, Ahvaz, Iran
2 Department of Nephrology, Imam Reza Hospital, Mashhad University of Medical Sciences, Mashhad, Iran
3 Department of Chemistry, Behbahan Branch, Islamic Azad University, Behbahan, Iran
*Corresponding Author: *Corresponding author: Dr. Farzaneh Sharifipour, Department of Nephrology, Imam Reza Hospital, Mashhad University of Medical Sciences, Mashhad, Iran., Email:
Sharifipourf@mums.ac.ir
Abstract
Introduction: Tuberous sclerosis, an autosomal dominant disorder, is characterized by hamartomas in different organs of body. Kidney involvement is quite common in this disorder and sometimes it is accompanied by adult polycystic kidney disease.Case: A 46-year-old woman who was being treated for adult polycystic kidney disease and systemic hypertension was admitted to this hospital because of acute lower limb edema. Color Doppler sonography study showed deep vein thrombosis of lower limbs and also left iliac vein. Despite the initiation of hourly heparin infusion, the patient involved by pulmonary emboli on the 2nd day of admission. Lab tests revealed protein C and S deficiency. The patient had already experienced episodes of pneumothorax too. Cutaneous lesions due to sebaceous adenoma were seen on her cheeks, nose and neck. She had also periungual fibroma suggestive of tuberous sclerosis.Conclusion: Although, according to our patient with both tuberous sclerosis and protein C and S deficiency, a significant relation between these two diseases, cannot confirmed, however, evaluation of other patients who have tuberous sclerosis can help to confirm or rule out this relation.
Implication for health policy/practice/research/medical education
Tuberous sclerosis, an autosomal dominant disorder, is characterized by hamartomas in different organs of body. Kidney involvement is quite common in this disorder and sometimes it is accompanied by adult polycystic kidney disease. Regarding the few number of patients with both tuberous sclerosis and protein C and S deficiency, a significant relation between these two, cannot be obviously found. Evaluation of the patients who have tuberous sclerosis can help to confirm or rule out this relation and its etiology.
Please cite this paper as: Beladi-Mousavi S, Zeraati A, Sharifipour F, Naghibi M, Kalani F, Moussavinik S, et al. Tuberous sclerosis, deep vein thrombosis and lack of C and S proteins: A case report. J Ren Inj Prev 2012; 1(1): 33-36.