Öz
Thin glomerular basement membrane disease and Alport syndrome are two hereditary nephropathies responsible for recurrent macroscopic haematuria in children. Diagnosis of the both diseases usually depends on careful examination of both the clinical features of the patient and those of the family members, and evaluation of the basal membrane via electron microscopy. In this article a 13 year-old boy with recurrent macroscopic haematuria, whose renal biopsy revealed thinning of glomerular basement membrane, was discussed.
Anahtar Kelimeler
Adolescent Male Nephritis Hereditary Hematuria Anti-Glomerular Basement Membrane Disease
Kaynakça
- 1. Park YH, Choi JY, Chung HS et al. Haematuria and proteinuria in a mass scholl urine screening test. Pediatr Nephrol 2005 ;20:1126-1130 2. Piqueras Al, White RHR, Raafat F et al. Renal biopsy diagnosis in children presenting with haematuria. Pediatr Nephrol 1998 ;12:386-391 3. Liapis H, Foster K, Miner JH. Red cell traverse through thin glomerular basement membrane
- Kidney Int 2002; 61: 762- 763 4. Clifford E.Kashtan. Familial haematurias:what we know and what we don't. Pediatr Nephrol 2005;20:1027-1035 5. Kashtan CE. Animal models ofAlport syndrome
- Nephrol Dial Transplant, 2002; 17: 1359-1361 6. Flinter FA, Cameron JS, Chantler C, Houston I, Bobrow M. Genetics of classic Alport 's syndrome
- Lancet, 1988; 29:1232-1241
- 7. Jais JP, Knebelmann B, Giatras 1, De Marchi M, Rizzoni G et al. X-linked Alport syndrome: Natural history in 195 families and genotype- phenotype correlations in males. J Am Soc Neprol 2000; 11: 649-657
- 8. Zhou J, Leinonen A, Tryggvason K. Structure of human type IV collagen COL4A5 gene. J Biol Chem 1994; 269: 6608-6614
- 9.Paassen PV, Peter J. C, Vreisman VB et al .Signs and symptoms of thin basement nephropathy.A prospective regional study on primary glomeruler disease. Kidney Int 2004; 66 :909 10.Kashtan CE. Alport syndrome. Kidney Int 1997; 51(Suppl. 58): 69-71 11. Buza M, Dagher H, Wang YY et al. Mutations in the COL4A4 gene in thin basement membrane disease. Kidney Int 2003;63 :447 12. Moghal NE, Milford DV, White RHR et al
- Coexistence oh thin membrane and Alport nephropathies in families with haematuria. Pediatr Nephrol 1999 ;13:778-781 13.Callis L, Villa A, Carrera M, Nieto J. Long-term effects of cyclosporine A in Alport's syndrome. Kidney Int 1999; 55:1051-1056 14. Tryggvason K, Heikkila P, Pettersson E, Tibell A, Thorner P. Can Alport syndrome be treated by gene therapy? Kidney Int, 1997; 51: 1493-149
Öz
İnce glomerüler bazal membran hastalığı(IGBMH) ve Alport sendromu(AS), çocukların tekrarlayan hematürilerinin araştırılmasında düşünülmesi gereken herediter nefropatilerdendir. Her ikisinde de hastalığın tanısı, klinik belirtilerin yanı sıra aile üyelerinin çok dikkatli incelenmesine ve bazal membran yapısının elektron mikroskop ile değerlendirilmesine dayanır. Bu yazıda tekrarlayan makroskopik hematüri nedeni ile tetkik edilen 13 yaşındaki bir erkek çocukta, elektron mikroskopisinÜe saptanan glomerüler membranda incelme bulgusu tartışılacaktır.
Kaynakça
- 1. Park YH, Choi JY, Chung HS et al. Haematuria and proteinuria in a mass scholl urine screening test. Pediatr Nephrol 2005 ;20:1126-1130 2. Piqueras Al, White RHR, Raafat F et al. Renal biopsy diagnosis in children presenting with haematuria. Pediatr Nephrol 1998 ;12:386-391 3. Liapis H, Foster K, Miner JH. Red cell traverse through thin glomerular basement membrane
- Kidney Int 2002; 61: 762- 763 4. Clifford E.Kashtan. Familial haematurias:what we know and what we don't. Pediatr Nephrol 2005;20:1027-1035 5. Kashtan CE. Animal models ofAlport syndrome
- Nephrol Dial Transplant, 2002; 17: 1359-1361 6. Flinter FA, Cameron JS, Chantler C, Houston I, Bobrow M. Genetics of classic Alport 's syndrome
- Lancet, 1988; 29:1232-1241
- 7. Jais JP, Knebelmann B, Giatras 1, De Marchi M, Rizzoni G et al. X-linked Alport syndrome: Natural history in 195 families and genotype- phenotype correlations in males. J Am Soc Neprol 2000; 11: 649-657
- 8. Zhou J, Leinonen A, Tryggvason K. Structure of human type IV collagen COL4A5 gene. J Biol Chem 1994; 269: 6608-6614
- 9.Paassen PV, Peter J. C, Vreisman VB et al .Signs and symptoms of thin basement nephropathy.A prospective regional study on primary glomeruler disease. Kidney Int 2004; 66 :909 10.Kashtan CE. Alport syndrome. Kidney Int 1997; 51(Suppl. 58): 69-71 11. Buza M, Dagher H, Wang YY et al. Mutations in the COL4A4 gene in thin basement membrane disease. Kidney Int 2003;63 :447 12. Moghal NE, Milford DV, White RHR et al
- Coexistence oh thin membrane and Alport nephropathies in families with haematuria. Pediatr Nephrol 1999 ;13:778-781 13.Callis L, Villa A, Carrera M, Nieto J. Long-term effects of cyclosporine A in Alport's syndrome. Kidney Int 1999; 55:1051-1056 14. Tryggvason K, Heikkila P, Pettersson E, Tibell A, Thorner P. Can Alport syndrome be treated by gene therapy? Kidney Int, 1997; 51: 1493-149
Ayrıntılar
| Birincil Dil | Türkçe |
|---|---|
| Bölüm | Makaleler |
| Yazarlar | |
| Yayımlanma Tarihi | 1 Mart 2009 |
| Yayımlandığı Sayı | Yıl 2009 Cilt: 40 Sayı: 2 |