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Saudi Journal of Kidney Diseases and Transplantation
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LETTER TO THE EDITOR Table of Contents   
Year : 2010  |  Volume : 21  |  Issue : 4  |  Page : 754-755
Marfan syndrome and focal segmental glomerulosclerosis: A novel association


1 Department of Nephrology, All India Institute of Medical Sciences, New Delhi, India
2 Department of Nephrology, Sir Ganga Ram Hospital, New Delhi, India

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Date of Web Publication26-Jun-2010
 

How to cite this article:
Gupta A, Gaikwad J, Khaira A, Rana DS. Marfan syndrome and focal segmental glomerulosclerosis: A novel association. Saudi J Kidney Dis Transpl 2010;21:754-5

How to cite this URL:
Gupta A, Gaikwad J, Khaira A, Rana DS. Marfan syndrome and focal segmental glomerulosclerosis: A novel association. Saudi J Kidney Dis Transpl [serial online] 2010 [cited 2019 Nov 13];21:754-5. Available from: http://www.sjkdt.org/text.asp?2010/21/4/754/64672
To the Editor,

The Marfan syndrome is an autosomal domi­nant disorder classically defined by well-cha­racterized features in the cardiovascular, ocular, and skeletal systems. We present an 18-year­old boy who had swelling all over the body for two months. He had history of delayed motor milestones during his childhood. On physical examination, he was tall, thin, had high arched palate, disproportionately longer limbs as com­pared to trunk with arachnodactyly [Figure 1]. His blood pressure was 138/88 mmHg in res­ting position. He also had ectopia lentis and features of mild aortic regurgitation which was later confirmed on echocardiography. A clini­cal diagnosis of the Marfan syndrome was made and other family members were screened for the disease. Due to non-availability, mole­cular studies of the fibrillin gene could not be performed. Investigations revealed blood urea of 24 mg/dL, serum creatinine of 0.8 mg/dL, estimated glomerular filtration rate (eGFR) of 116 mL/min, serum total proteins of 4.2 g/L, serum albumin of 1.6 g/L and serum choles­terol of 288 mg/dL. Urine routine showed pro­tein 4 +, red cells 0-1, white cells 0-1 and 24­hour urine protein of 4.9 g/day. A diagnosis of the nephrotic syndrome was made and renal biopsy was performed. Renal histology was suggestive of focal and segmental glomerulo­sclerosis (FSGS) [Figure 2]. He was put on ramipril, losartan and oral steroids to which he responded and went into complete remission.

At two years follow-up, his proteinuria is negative on dipstick and his serum creatinine is 0.9 mg/dL. Interestingly, his younger bro­ther aged 17-years was found to have features of the Marfan syndrome with asymptomatic sub-nephrotic proteinuria and normal eGFR. He was also biopsied and diagnosed to have FSGS.

The cases enlighten a novel renal association of the Marfan syndrome and FSGS. The docu­mented renal lesions in the Marfan syndrome include cystic lesions, medullary sponge kid­ney, recurrent nephrolithiasis and glomerular basement alterations. [1],[2],[3] Our case, for the first time, showed the association of FSGS in a pa­tient with the Marfan syndrome. The patho­genesis of this association is speculative. The microfibrillar protein fibrillin-1 is a compo­nent of elastin in aorta, connective tissues and lens ligament. Likewise, it is also a component of the mesangial matrix. Studies in mice models have shown that mutations in fibrillin­1 may contribute to glomerular damage in hypertensive and diabetic kidney disease via compensatory upregulation of decorin. [4] Pro­bably, such a mechanism is responsible for the occurrence of FSGS.

Recent studies have suggested that abnorma­lities in the TGF-β-signaling pathway may re­present a final common pathway for the deve­lopment of the Marfan phenotype. [5] The gene defect ultimately leads to decreased and dis­ordered incorporation of fibrillin into the con­nective tissue matrix. This mechanism opens a new gate to the use of antisense oligonuc­leotides inhibiting TGF-β expression, or func­tion such as decorin. Also, downregulation of TGF-β via angiotensin II antagonism may prove beneficial. In our case, treatment was with angiotensin converting enzyme inhibitor (ACE-I) and receptor blocker (ARB) and ste­roids, all of which do have some action on TGF-β.

To conclude, FSGS is a new association of the Marfan syndrome. The treatment of FSGS with ACE-I and ARB proves to be beneficial. It may also help in regression of co-existing pathologies in this syndrome by its action on TGF-β.

 
   References Top

1.Chow K, Pyeritz RE, Litt HI. Abdominal vis­ceral findings in patients with Marfan syn­drome. Genet Med 2007;9(4):208-12.  Back to cited text no. 1      
2.Schoeneman MJ, Plewinska M, Mucha M, Mieza M. Marfan syndrome and medullary sponge kidney: case report and speculation on patho­genesis. Int J Pediatr Nephrol 1984;5(2):5103-­4.  Back to cited text no. 2      
3.Sbar GD, Venkataseshan VS, Huang Z, Marquet E, Brunswick JW, Churg J. Renal disease in Marfan syndrome. Am J Nephrol 1996;16(4): 320-6.  Back to cited text no. 3      
4.Hartner A, Schaefer L, Porst M, et al. Role of fibrillin-1 in hypertensive and diabetic glome­rular disease. Am J Physiol Renal Physiol 2006;290(6): F1329-36.  Back to cited text no. 4      
5.Wipff J, Allanore Y, Boileau C. Interactions between fibrillin-1 and tgf-beta: consequences and human pathology. Med Sci (Paris) 2009;25 (2):161-7.  Back to cited text no. 5      

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Correspondence Address:
Ankur Gupta
Department of Nephrology, All India Institute of Medical Sciences, New Delhi
India
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PMID: 20587891

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