Buradasınız

FAMILIYAL JUVENIL HIPERURISEMIK NEFROPATILI IKI KARDEŞ: OLGU SUNUMU

FAMILIAL JUVENILE HYPERURICAEMIC NEPHROPATHY IN TWO BROTHERS: CASE REPORT

Journal Name:

Publication Year:

Abstract (2. Language): 
Familial juvenile hyperuricemia nephropathy (FJHN) is an autosomal dominant renal disease characterized by juvenile onset of hyperuricemia, gouty artritis, and progressive renal failure at an early age. Early treatment with allopurinol may prevents renal deterioration. Symptomless members of families in which the condition has been identified should be screened also, for renal function and urate handling. Here we report two brothers with FJHN which present after the development of renal failure.
Abstract (Original Language): 
Familiyal jüvenil hiperürisemik nefropati (FJHN), jüvenil yaşta başlayan hiperürisemi, gut artriti ve erken yaşta ilerleyici böbrek yetersizliği ile belirgin otozomal dominant geçişli bir böbrek hastalığıdır. Erken dönemde allopürinol tedavisi ile hastalığın ilerlemesi önlenebilir. FJHN tanısı koyulan hastaların yakınları da hiperürisemi ve böbrek fonksiyonları açısından mutlaka tanınmalıdır. Biz bu makalede bize böbrek yetersizliği geliştikten sonra başvuran FJHN'li iki kardeş olguyu sunuyoruz.
FULL TEXT (PDF): 
233-235

REFERENCES

References: 

1. Duncan H, Dixon SJ. Gout. Familial hyperuricemia and renal disease. Q J Med 1960;29:127-135
2. McBride MB, Simmonds HA, Ogg CS et al. Presymptomatic detection of familial juvenile hyperuricaemic nephropathy in children. Pediatr Nephrol 1998; 12: 359-364
3. Cameron JS, More F, McBride MB et al. Inherited disorders of purine metabolism and transport. In: Davidson AM, et al. (eds), Oxford Textbook of Clinical Nephrology. Oxford Universty Press. Oxford, 1997, pp 2469-2483
4. Puig JG, Torres RJ. Familial juvenile hyperuricaemic nephropathy Q J Med 2003 ; 96:
172-173
5. Calabrese G, Simmonds HA, Cameron JS. Precocious familial gout with reduced fractional urate clearance and normal purine enzymes.Q J
Med 1990 75:441-450
6. Moro F, Ogg CS, Cameron JS et al. Familial juvenile gout nephropathy with renal urate hypoexcretion preceeding renal disease. Clin
Nephrol 1991 ,35:263-269
7. Miranda ME , Puig JG, Mateos FA et al. The
influence of allopurinol on renal deterioration in familial nephropathy associated with hyperuricaemia. Adv Exp Med Biol 1994; 370:61¬64
8. Fairbanks LD, Cameron JS, Venkat-Raman G et al. Early treatment with allopurinol in familial juvenile hyperuricaemic nephropathy (FJHN) ameliorates the long-term progression of renal
disease. Q J Med 2002; 95:597-607
9. McBride MB, Simmonds HA, Oggs CS et al.
Efficacy of allopurinol in ameliorating the progression in familial juvenile hyperuricaemic nephropathy (FJHN): a six year update. Adv exp
Med Biol 1998;431:7-11
10. Moro F, Simmonds HA, McBride MB et al. Does
allopurinol affect the progression in familial juvenile gouty nephropathy. Adv Exp Med Biol
1992;309:199-203
11. Cameron, JS, Moro F, Simmonds HA. What is the pathogenesis of familial juvenile gouty
nephropathy. Adv Exp Med Biol 1991: 309, 185¬191
12. Burnier M, Roch-Ramel F, Brunner HR. Renal effects of angiotensin II receptor blockade in normotensive subjects. Kidney Int 1996; 49: 1787¬1790
13. Striburkova B, Majewski J, Sebesta I et al. Familial juvenile hyperuricemic nephropathy: localization of the gene on chromosome 16pll.2 and evidence for genetic heterogeneity. Am J Hum
Genet. 2000, 66:1989-1994

Thank you for copying data from http://www.arastirmax.com