Seçil CONKAR, Ebru YILMAZ, Kadriye ÖZDEMİR, İPEK KAPLAN BULUT, Halil BOZKAYA, Sevgi MİR

Neurofibromatosis type 1 (NF1): as a cause of hypertension

Nörofibromatozis tip 1 otozomal dominant geçiş gösteren nöroektodermal ve mezodermal dokuların displazisi sonucu ortaya çıkan klinik bulgular ile karekterizedir. Cafe-au-lait denilen karekteristik pigmente deri lezyonu, aksiller ve inguinal çillenme, deri nörofibromaları, Lisch nodülleri denilen pigmente iris hamartomaları, merkezi sinir sistemi tümörleri, periferik sinir sistemi tümörleri ve diğer sistemleri ilgilendiren tümörler görülebilir. Nörofibromatoz tip 1 de hipertansiyon renovasküler hastalıklar, mid-aortik sendrom veya feokromasitomaya bağlı olarak gelişebilir. Çocukluk yaşlarında nörofibramatoza bağlı hipertansiyonun nedeni genellikle renal arter stenozu olup genellikle damarın proksimalini veya orijini ilgilendirir. Hastaların %25'inde aort koarktasyonu ile birliktedir. Nörofibromatozis nadir görülen bir hastalık olsada çocukluk çağında ki renovasküler hipertansiyonun önemli nedenlerinden biridir. Nörofibramatoz tip 1 nedeniyle izlenirken hipertansiyon tespit edilen iki olgumuzu NF 1 izleminde kan basıncı ölçümleri ile tarama yapılmasının önemini belirtmek ve aort ana dallarının ve renal arterlerin hipertansiyon tespit edilen olgularda stenoz açısından incelenmesinin önemini vurgulamak için sunduk

Hipertansiyon sebebi olarak Nörofibromatozis Tip 1 (NF1)

Neurofibromatosis type 1 (NF1), an autosomal dominant disorder, is characterized by various clinical manifestations as a result of dysplasia of neuroectodermal and mesodermal tissues. Cafe-au-lait spots, axillary and inguinal freckling, cutaneous neurofibromas with a variable clinical expression, iris Lisch nodules, and multiple tumors of central and peripheral nervous system, also other systems may be involved. NF1 patients develop hypertension due to renovascular diseases, mid-aortic syndrome, or pheochromocytoma. In pediatric NF1 patients elevated blood pressure is usually due to renal artery stenosis, generally involving the origin or the proximal tract of the vessel, and is associated in 25% of patients with coarctation of the abdominal aorta. Several patients with NF1 and hypertension have been reported in the literature, showing the extreme variability in anatomical lesions. Although NF1 is a rare disease, it is an important cause of renovasculer hypertension in childhood. Abdominal bruit is an alerting physical finding in diagnosis of renal artery stenosis. We here presented our two cases diagnosed with hypertension while being screened for NF1 to emphasize the importance of blood pressure measurement in children with NF1 screening. Also we suggest that hypertensive NF1 patients should be examined in terms of stenosis in the major branch vessels of the aorta and renal arteries

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Lehrnbecher T, Gassel AM, Rauh V, Kirchner T, Huppertz HI. Neurofibromatosis presenting as a severe systemic vasculopathy. Eur j pediatr 1994;153:107-109.
Finley JL, Dabbs DJ. Renal vascular smooth muscle proliferation in neurofibromatosis. Hum pathol 1988;19:107-110.
Gardiner GA, Jr., Freedman AM, Shlansky-Goldberg R.Percutaneous transluminal angioplasty: delayed response in neurofibromatosis. Radiology 1988;169: 79-80.
Virdis R, Balestrazzi P, Zampolli M, Donadio A, Street M, Lorenzetti E. Hypertension in children with neurofibromatosis. Journal of human hypertension 1994;8:395-397.
Riccardi VM. Von Recklinghausen neurofibromatosis. The New England journal of medicine 1981;305:1617- 1627.
Hirayama K, Kobayashi M, Yamaguchi N ,et al. A case of renovascular hypertension associated with neurofibromatosis. Nephron 1996;72:699-704.
Strauss S, Bistritzer T, Azizi E, Peer A, Morag B. Renal artery stenosis secondary to neurofibromatosis in children: detection by Doppler ultrasound. Pediatric nephrology (Berlin, Germany) 1993;7:32-34.
Castanon Garcia-Alix M, Berga Fauria C, Ninot Sugranes S, Mortera Perez C, Mulet Melia J. Neurofibromatosis as a cause of arterial hypertension in children. Anales espanoles de pediatria 1992;37:228-232.
Gill DG, Mendes de Costa B, Cameron JS, Joseph MC, Ogg CS, Chantler C.Analysis of 100 children with severe and persistent hypertension. Arch Dis child 1976;51:951-956.
Baum MA, Harris HW, Jr, Burrows PE, Schofield DE, Somers MJ. Renovascular hypertension in Marfan syndrome. Pediatric nephrology (Berlin, Germany) 1997;11:499-501.
Deal JE, Snell MF, Barratt TM, Dillon MJ. Renovascular disease in childhood. Pediatr 1992;121:378-384.
Onat T, Zeren E. Coarctation of the abdominal aorta. Review of 91 cases. Cardiologia 1969;54:140-157.
Graham LM, Zelenock GB, Erlandson EE, Coran AG, Lindenauer SM, Stanley JC. Abdominal aortic coarctation and segmental hypoplasia. Surgery 1979;86:519-529.