Pediatr. praxi. 2017;18(3):182-185 | DOI: 10.36290/ped.2017.082

From growth retardation to kidney transplantation

MUDr. Zuzana Konečná¹, prof. MUDr. Zdeněk Doležel, CSc.², MUDr. Dana Dostálková³

Dětské oddělení, Uherskohradišťská nemocnice, a. s.; 1

Pediatrická klinika LF MU a FN Brno; 2

Pediatrická klinika – ambulance dětské nefrologie, FN Brno; 3

Nephronophthisis (NPHP) ranks among serious hereditary childhood kidney diseases characterized by a progressive cystic degenerationof 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 froma 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 fora long period of the development of the disease and the disorder can only be indicated by concentration ability disorder leadingto polyuria and consequent polydipsia. Yet so far, even in the early determination of diagnosis, there are no essential remedialmeasures to slow down the progression of the disease prior to inclusion in the dialysis transplant program.

Keywords: nephronophthisis, cystic kidney disease, ciliopathy, chronic renal failure

Received: March 8, 2018; Accepted: April 17, 2018; Prepublished online: April 17, 2018; Published: August 1, 2017  Show citation