Article

First Case Report of Nephronophthisis Type 1 (NPHP1) Complicated With Neurogenic Bladder in a Pediatric Patient: Clinical Phenotype and Rapid Progression to End-Stage Renal Disease

2026-06-11

Abstract excerpt

<title>Abstract</title> <p>Nephronophthisis (NPHP) is an autosomal recessive cystic kidney disease and a leading cause of pediatric end stage renal disease (ESRD). Tethered cord is one of the important causes of neurogenic bladder in children, and the latter is a risk factor for secondary chronic kidney disease(CKD). The co-occurrence of nephronophthisis type 1 (NPHP1) and tethered cord has never been reported pr...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 21f5f249-1565-50b6-9f83-7ff39cdd21b7
DOI: 10.21203/rs.3.rs-9877529/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

First Case Report of Nephronophthisis Type 1 (NPHP1) Complicated With Neurogenic Bladder in a Pediatric Patient: Clinical Phenotype and Rapid Progression to End-Stage Renal DiseaseDOI 10.21203/rs.3.rs-9877529/v1Read

Nephronophthisis-Pathobiology and Molecular Pathogenesis of a Rare Kidney Genetic Disease.Semantic proximity Read

NephronophthisisSemantic proximity Read

Phenotypic Spectrum of Children with Nephronophthisis and Related Ciliopathies.Semantic proximity Read

Pathophysiology of Congenital Anomalies of the Kidney and Urinary Tract: A Comprehensive Review.Semantic proximity Read

A Novel NIPBL Variant Causes Cornelia de Lange Syndrome with horseshoe kidney and renal insufficiency: case report and literature reviewSemantic proximity Read

Nephronophthisis.Semantic proximity Read

[Congenital nephrotic syndrome].Semantic proximity Read

Simultaneous mutations of LAMB2 and NPHP1genes in a Chinese girl with isolated congenital nephrotic syndrome: a case report.Semantic proximity Read

Nephronophthisis and related syndromes.Semantic proximity Read

A case report of NPHP1 deletion in Chinese twins with nephronophthisis.Semantic proximity Read

A cross-sectional nationwide survey of congenital and infantile nephrotic syndrome in JapanSemantic proximity Read

Nephronophthisis related to homozygous NPHP1 gene deletion as a cause of chronic renal failure in adultsSemantic proximity Read