Od retardace růstu k transplantaci ledviny
| Title in English | From growth retardation to kidney transplantation |
|---|---|
| Authors | |
| Year of publication | 2017 |
| Type | Article in Periodical |
| Magazine / Source | Pediatrie pro praxi |
| MU Faculty or unit | |
| Citation | |
| Field | Paediatry |
| Keywords | nephronophthisis; cystic kidney disease; ciliopathy; chronic renal failure |
| Description | Nephronophthisis (NPHP) ranks among serious hereditary childhood kidney diseases characterized by a progressive cystic degeneration of functional renal parenchyma and its gradual replacement by a fibrous tissue. It results in a chronic kidney disease (CKD). According its development three types of the disease can be distinguished: infantile, juvenile and adolescent. Apart from a renal impairment, one-third of patients show extrarenal symptoms (for example polydactyly, coloboma, mental retardation, hepatopathia). Diagnosis in the early stages is highly difficult as patients' urine indicates utterly normal findings in urine tests for a long period of the development of the disease and the disorder can only be indicated by concentration ability disorder leading to polyuria and consequent polydipsia. Yet so far, even in the early determination of diagnosis, there are no essential remedial measures to slowdown the progression of the disease prior to inclusion in the dialysis transplant program. |