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Saudi Journal of Kidney Diseases and Transplantation
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LETTER TO THE EDITOR Table of Contents   
Year : 2008  |  Volume : 19  |  Issue : 3  |  Page : 453-454
Focal and Segmental Glomerulosclerosis and von Recklinghausen's Neurofibromatosis: Coincidental or Associated?

Department of Nephrology and Dialysis, Hassani General Hospital, 62000 Nador, Morocco

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How to cite this article:
Tarrass F. Focal and Segmental Glomerulosclerosis and von Recklinghausen's Neurofibromatosis: Coincidental or Associated?. Saudi J Kidney Dis Transpl 2008;19:453-4

How to cite this URL:
Tarrass F. Focal and Segmental Glomerulosclerosis and von Recklinghausen's Neurofibromatosis: Coincidental or Associated?. Saudi J Kidney Dis Transpl [serial online] 2008 [cited 2020 Nov 29];19:453-4. Available from: https://www.sjkdt.org/text.asp?2008/19/3/453/40511
To the Editor:

A 58-year-old man with known von Recklinghausen's neurofibromatosis (NF) and hypertension was admitted in our depart­ment because of deteriorating renal func­tion. He did not smoke, drink, or use drugs and his last serum creatinine level done three years prior was normal. No family history of NF or kidney disease was noted. On physical examination, the blood pressure was 150/90 mm Hg. Cafe-au-lait spots, and multiple neurofibromas scattered across chest, back, and the arms were present [Figure - 1]. The serum creatinine was 6.5 mg/dl (clearance = 25 ml/min). Urinalysis showed proteinuria of four g/day, with microscopic hematuria. Serum and urine protein electrophoresis showed no evidence of monoclonal bands. Anti-neutrophilic cyto­plasmic antibody and anti-glomerular base­ment membrane antibody were negative. Complement factors were normal. Serolo­gical tests for hepatitis B, C, syphilis and human immune deficiency virus were ne­gative. Ultrasonography showed normal sized kidneys and normal renal arteries. Renal biopsy showed focal and segmental glome­rulosclerosis (FSGS) with severe interstitial fibrosis and tubular atrophy [Figure - 2]. Immunofluorescence revealed subendothelial and mesangial deposits of IgM and C3. Angiotensin converting enzyme inhibitor was given to slow the progression of chro­nic renal failure.

Von Recklinghausen disease or NF type 1 is an autosomal dominant disorder caused by a mutation in the NF1 gene, which codes for a protein "neurofibromin", involved in inhibiting cell proliferation. [1] This disorder is characterized by various clinical mani­festations as a result of dysplasia of neuro­ectodermal and mesodermal tissues. Cafι-au-lait spots, cutaneous neurofibromas, and tumors of the central and peripheral ner­vous system, as well as other systems may be involved.

Renal involvement in patients with NF1 is rare. The most common manifestation appears to be renal artery stenosis. [1],[2] Reports of glomerulonephritis associated with NF1 were only sporadic. Previously, membranous nephropathy was reported in three cases [2],[3],[4] and IgA nephropathy in a Japanese woman and her son. [5]

To our knowledge, FSGS has been pre­viously reported in a man with NF1. [1] How­ever, the known mutations resulting in FSGS do not link to those resulting in NF1. Linkage investigations of the affected patients should be considered, to assess whe­ther the co-occurrence of both diseases is evidence.

   References Top

1.Gersch MS, Talor Z. Focal segmental glomerular sclerosis in a patient with neurofibromatosis type I. Am J Kidney Dis 2006;47(1):e17-9.  Back to cited text no. 1    
2.Wani MM, Reshi AR, Banday KA, Najar MS. von Recklinghausen's neurofibromatosis asociated with membranous glomerulo­nephritis. Saudi Med J 2006;27(4):534-5.  Back to cited text no. 2    
3.Toth T, Trinn C, Simon L, Nagy J. A case of membranous glomerulonephritis asso­ciated with Recklinghausen's neurofibro­matosis. Clin Nephrol 1996;45(4):271-2.  Back to cited text no. 3    
4.Kokubo T, Hiki Y, Horii A, Kobayashi Y. Recklinghausen's neurofibromatosis asso­ciated with membranous nephropathy. Nephron 1993;65(3):486.  Back to cited text no. 4    
5.Taniguchi Y, Yorioka N, Kanbe M, et al. Parent and child cases of IgA nephropathy associated with von Recklinghausen's disease. Nephron 1997;75(1):113-4.  Back to cited text no. 5    

Correspondence Address:
Faissal Tarrass
Department of Nephrology and Dialysis, Hassani General Hospital, 62000 Nador
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PMID: 18445911

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  [Figure - 1], [Figure - 2]

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