eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | nephronophthisis |
| Symptom | C0022658|renal disease |
| Sentences | 2 |
| PubMedID- 24027799 | Most affected children develop nephronophthisis that often leads to end-stage renal disease (esrd) in infancy or childhood, a major cause of morbidity and mortality. |
| PubMedID- 21196627 | Here, we report a 12-year-old boy, a case of end-stage renal disease due to nephronophthisis, who got the kidney transplanted from a 16-year-old cadaver, and after 18 months of uneventful transplantation on triple immunosuppressive therapy (mycophenolate mofetil (mmf), cyclosporin and prednisolone), presented with nephrotic feature (edema, heavy proteinuria, hypoalbuminemia and hyperlipidemia). |
Page: 1