# Case Report: A renal wasting disease caused by a pure deletion of nephrocystin-1

## TL;DR

A child with a rare kidney disease caused by a deletion in the NPHP1 gene highlights the importance of genetic testing for accurate diagnosis.

## Contribution

This case report presents a rare instance of nephronophthisis caused by a pure deletion in the NPHP1 gene.

## Key findings

- The child was diagnosed with nephronophthisis due to a homozygous deletion in the NPHP1 gene.
- The case emphasizes the need for genetic diagnosis in atypical renal wasting diseases.
- Pediatricians should be alert to atypical presentations of renal diseases for early detection.

## Abstract

Nephronophthisis is an autosomal recessive disorder associated with the tubular interstitium of the kidney, and can lead to renal failure in children and adolescents. Mutations in the gene encoding nephrocystin-1, NPHP1, are frequently associated with the disease. Here, we describe the case of a child who presented to the clinic with febrile convulsions and who was ultimately diagnosed with nephronophthisis caused by a homozygous deletion of the NPHP1 gene. Alerting pediatricians to the recognition of atypical renal wasting disease and reclarifying the diagnostic value of genetic diagnosis for this disease.