Olgu Sunumu
Yıl 2023,
Cilt: 23 Sayı: 1, 101 - 104, 27.03.2023
Öz
Konjenital nefrotik sendrom (CNS), doğumda veya yaşamın ilk üç ayında başlayan, nadir görülen kalıtsal bir böbrek hastalığıdır. CNS, şiddetli proteinüri, hipoalbüminemi, ödem ve hiperlipidemi ile karakterizedir. CNS’ye esas olarak glomerüler filtrasyon bariyerinde hasarla sonuçlanan gen mutasyonları neden olur. Biri spontan remisyonda olan dört hastamızın klinik seyrini sunmak istedik. Bu çalışmada nefrin mutasyonları olan hastaların farklı klinik seyirlerine dikkat çekmek istedik.
Anahtar Kelimeler
Kaynakça
- 1. Jalanko H. Congenital nephrotic syndrome. Pediatr Nephrol 2009; 24: 2121-2128. google scholar
- 2. Wang J.J, Mao J.H. The etiology of congenital nephrotic syndrome: current status and challenges. World J Pediatr. 2016; 12(2): 149158. google scholar
- 3. Heeringa S, Vlangos C, Chernin G, Hinkes B, Gbadegesin R, Liu J. et al. Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome. Nephrol Dial Trasnplant. 2008; 23: 3527-33. google scholar
- 4. Akchurin O, Reidy K.J. Genetic causes of proteinuria and nephrotic syndrome: impact on podocyte pathobiology. Pediatr Nephrol. 2015; 30: 221-33. google scholar
- 5. Liu L, Doné S.C, Khoshnoodi J, Bertorello A, Wartiovaara J, Berggren O.P. et al. Defective nephrin trafficking caused by missense mutations in the NPHS1 gene: insight into the mechanisms of congenital nephrotic syndrome. Human Molecular Genetics. 2001; 10(23): 2637-2644. google scholar
- 6. Gigante M, Piemontese M, Gesualdo L, Lolascon A, Aucella F. Molecular and Genetic Basis of Inherited Nephrotic Syndrome Int J Nephrol. 2011; 2011: 792195. google scholar
- 7. Goldenberg A, Ngoc L, Thouret M, Cormier-Daire V, Gagnadoux M, Chretien D. et al. Respiratory chain deficiency presenting as congenital nephrotic syndrome. Pediatr Nephrol. 2005; 20: 465-9. google scholar
- 8. Patrakka J, Kestila M, Wartiovaara J, Ruotsalainen V, Tissari P, Lenkkeri U. et al. Congenital nephrotic syndrome (NPHS1): features resulting from different mutations in Finnish patients. Kidney Int. 2000; 58: 972-80. google scholar
- 9. Antikainen M, Sariola H, Rapola J, Taskinen M.R, Holthofer H, Holmberg C. Pathology of renal arteries of dyslipidemic children with congenital nephrosis. APMIS. 1994; 102: 129-34. google scholar
- 10. Antikainen M, Holmberg C, Taskinen M. Growth, serum lipoproteins an apoproteins in infants with congenital nephrosis. Clin Nephrol. 1992; 38: 254-63. google scholar
- 11. Rapola J, Savilahti E. Immunofluorescent and mor- phological studies in congenital nephrotic syndrome. Acta Paediatr. 1971; 60: 253-63. google scholar
- 12. Schultheiss M, Ruf RG, Mucha BE, Wiggins R, Fuchshuber A, Lichtenberger A et al. No evidence for genotype/phenotype correlation in NPHS1 and NPHS2 mutations. Pediatr Nephrol. 2004; 19:1340-1348. google scholar
- 13. Koziell A, Grech V, Hussain S, Lee G, Lenkkeri U, Tryggvason K et al. Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter- relationship in glomerular filtration. Hum Mol Genet. 2002; 11:379-388. google scholar
- 14. Sharief SN, Hefni NA, Alzahrani WA, Nazer II, Bayezeed MA, ALhasan KA et al. Genetics of congenital and infantile nephrotic syndrome. World J Pediatr. 2019; 15: 198-203. google scholar
Yıl 2023,
Cilt: 23 Sayı: 1, 101 - 104, 27.03.2023
Öz
Congenital nephrotic syndrome (CNS) is a rare hereditary kidney disease that begins at birth or within the first three months of life. CNS is characterized by severe proteinuria, hypoalbuminemia, edema, and hyperlipidemia. It is primarily caused by gene mutations that result in damage to the glomerular filtration barrier. We wanted to present the clinical course of our four patients, one of whom was in spontaneous remission. In this study, we wanted to draw attention to the different clinical courses of patients with nephrin mutations.
Anahtar Kelimeler
Kaynakça
- 1. Jalanko H. Congenital nephrotic syndrome. Pediatr Nephrol 2009; 24: 2121-2128. google scholar
- 2. Wang J.J, Mao J.H. The etiology of congenital nephrotic syndrome: current status and challenges. World J Pediatr. 2016; 12(2): 149158. google scholar
- 3. Heeringa S, Vlangos C, Chernin G, Hinkes B, Gbadegesin R, Liu J. et al. Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome. Nephrol Dial Trasnplant. 2008; 23: 3527-33. google scholar
- 4. Akchurin O, Reidy K.J. Genetic causes of proteinuria and nephrotic syndrome: impact on podocyte pathobiology. Pediatr Nephrol. 2015; 30: 221-33. google scholar
- 5. Liu L, Doné S.C, Khoshnoodi J, Bertorello A, Wartiovaara J, Berggren O.P. et al. Defective nephrin trafficking caused by missense mutations in the NPHS1 gene: insight into the mechanisms of congenital nephrotic syndrome. Human Molecular Genetics. 2001; 10(23): 2637-2644. google scholar
- 6. Gigante M, Piemontese M, Gesualdo L, Lolascon A, Aucella F. Molecular and Genetic Basis of Inherited Nephrotic Syndrome Int J Nephrol. 2011; 2011: 792195. google scholar
- 7. Goldenberg A, Ngoc L, Thouret M, Cormier-Daire V, Gagnadoux M, Chretien D. et al. Respiratory chain deficiency presenting as congenital nephrotic syndrome. Pediatr Nephrol. 2005; 20: 465-9. google scholar
- 8. Patrakka J, Kestila M, Wartiovaara J, Ruotsalainen V, Tissari P, Lenkkeri U. et al. Congenital nephrotic syndrome (NPHS1): features resulting from different mutations in Finnish patients. Kidney Int. 2000; 58: 972-80. google scholar
- 9. Antikainen M, Sariola H, Rapola J, Taskinen M.R, Holthofer H, Holmberg C. Pathology of renal arteries of dyslipidemic children with congenital nephrosis. APMIS. 1994; 102: 129-34. google scholar
- 10. Antikainen M, Holmberg C, Taskinen M. Growth, serum lipoproteins an apoproteins in infants with congenital nephrosis. Clin Nephrol. 1992; 38: 254-63. google scholar
- 11. Rapola J, Savilahti E. Immunofluorescent and mor- phological studies in congenital nephrotic syndrome. Acta Paediatr. 1971; 60: 253-63. google scholar
- 12. Schultheiss M, Ruf RG, Mucha BE, Wiggins R, Fuchshuber A, Lichtenberger A et al. No evidence for genotype/phenotype correlation in NPHS1 and NPHS2 mutations. Pediatr Nephrol. 2004; 19:1340-1348. google scholar
- 13. Koziell A, Grech V, Hussain S, Lee G, Lenkkeri U, Tryggvason K et al. Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter- relationship in glomerular filtration. Hum Mol Genet. 2002; 11:379-388. google scholar
- 14. Sharief SN, Hefni NA, Alzahrani WA, Nazer II, Bayezeed MA, ALhasan KA et al. Genetics of congenital and infantile nephrotic syndrome. World J Pediatr. 2019; 15: 198-203. google scholar
Toplam 14 adet kaynakça vardır.
Ayrıntılar
| Birincil Dil | İngilizce |
|---|---|
| Konular | Çocuk Sağlığı ve Hastalıkları |
| Bölüm | Case Report |
| Yazarlar | |
| Yayımlanma Tarihi | 27 Mart 2023 |
| Yayımlandığı Sayı | Yıl 2023 Cilt: 23 Sayı: 1 |
