Childhood Kidney Diseases, 2015 NPHP is the most common monogenic cause of CKD in children or adolescents. Extra-renal symptoms often accompany, therefore examination of retina, hearing, and skeleton is necessary in patients with CKD with insidious onset.
Hee Gyung Kang, Hae Il Cheong
doaj +3 more sources
Pediatric Nephrology, 2009 Nephronophthisis (NPHP), a recessive cystic kidney disease, is the most frequent genetic cause of end-stage kidney disease in children and young adults. Positional cloning of nine genes (NPHP1 through 9) and functional characterization of their encoded proteins (nephrocystins) have contributed to a unifying theory that defines cystic kidney diseases as
Sophie Saunier +2 more
exaly +5 more sources
Rapidly Progressive Kidney Failure With Transient Non-Cystic Kidney Enlargement: A Case Report Highlighting Delayed Medullary Cyst Formation. [PDF]
Nephrology (Carlton)ABSTRACT Hereditary tubulointerstitial kidney diseases typically manifest as slowly progressive chronic kidney disease. Rapidly progressive kidney failure with non‐cystic nephromegaly is an exceptionally rare presentation posing significant diagnostic challenges.
Ito H +11 more
europepmc +2 more sources
Urothelial Carcinoma of the Bladder Following BK Virus Infection in a Pediatric Kidney Transplant Recipient. [PDF]
Pediatr TransplantABSTRACT Background Urothelial bladder carcinoma is extremely rare in children and its association with BK virus infection remains unclear. Methods We describe the case of an 11‐year‐old girl who developed a urothelial carcinoma of the bladder four years after receiving her first kidney transplant.
Ichas M +7 more
europepmc +2 more sources
Renal Ciliopathies: Sorting Out Therapeutic Approaches for Nephronophthisis
Frontiers in Cell and Developmental Biology, 2021 Nephronophthisis (NPH) is an autosomal recessive ciliopathy and a major cause of end-stage renal disease in children. The main forms, juvenile and adult NPH, are characterized by tubulointerstitial fibrosis whereas the infantile form is more severe and ...
Sophie Saunier +2 more
exaly +3 more sources
Case Report: A renal wasting disease caused by a pure deletion of nephrocystin-1 [PDF]
Frontiers in PediatricsNephronophthisis is an autosomal recessive disorder associated with the tubular interstitium of the kidney, and can lead to renal failure in children and adolescents.
Ting Dong +6 more
doaj +2 more sources
Many Genes—One Disease? Genetics of Nephronophthisis (NPHP) and NPHP-Associated Disorders
Frontiers in Pediatrics, 2018 Nephronophthisis (NPHP) is a renal ciliopathy and an autosomal recessive cause of cystic kidney disease, renal fibrosis, and end-stage renal failure, affecting children and young adults.
Elisa Molinari +2 more
exaly +3 more sources
Phenotypic and genotypic analysis of pediatric nephronophthisis patients with different levels of proteinuria [PDF]
Renal FailureWhile nephronophthisis (NPHP) classically manifests as mild tubular proteinuria, emerging evidence reports nephrotic-range proteinuria with edema. This study aims to explore the phenotypes and genotypes of pediatric NPHP patients with different levels of
Qiuxia Chen +6 more
doaj +2 more sources
Spatiotemporal dynamics of renal distal convoluted tubule dilatation and cyst formation in nephronophthisis type 1 mice [PDF]
Renal FailureNephronophthisis (NPH), a rare but serious ciliopathy, is the predominant genetic cause of end-stage kidney disease (ESKD) in children and adolescents. Renal tubular dilatation and cyst formation are key pathological features of NPH.
Weina Zhang +9 more
doaj +2 more sources
Progressive Retinal Degeneration and Juvenile Nephronophthisis in a Patient with Autosomal Recessive Ciliopathy: A Case Report [PDF]
Case Reports in OphthalmologyIntroduction: Inherited retinal diseases, particularly ciliopathies, often lead to irreversible blindness and are frequently accompanied by systemic manifestations such as nephronophthisis.
Jakob M. Pericak +2 more
doaj +2 more sources