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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
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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
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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
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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
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Pediatric Nephrology, 2008 Abstract Nephronophthisis (NPH) is an autosomal recessive disease characterized by a chronic tubulointerstitial nephritis that progress to terminal renal failure during the second decade (juvenile form) or before the age of 5 years (infantile form).
Salomon, Rémi +2 more
+8 more sources
Case report of a child with nephronophthisis from South Africa [PDF]
BMC PediatricsBackground Nephronophthisis (NPHP) is an autosomal recessive disorder with a subset of patients presenting with extrarenal manifestations such as retinal degeneration, cerebella ataxia, liver fibrosis, skeletal abnormalities, cardiac malformations, and ...
Rajendra Bhimma +2 more
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Frontiers in Molecular Biosciences, 2023 Renal epithelial cells are subjected to fluid shear stress of urine flow. Several cellular structures act as mechanosensors–the primary cilium, microvilli and cell adhesion complexes–that directly relay signals to the cytoskeleton to regulate various ...
Meriem Garfa Traoré +11 more
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Nephronophthisis and central veins abnormalities: A case report
Clinical Case Reports, 2021 Patients with genetic disorders are potentially more susceptible to present vascular abnormalities compared to the general population. For these patients, unusual difficulties could appear during a CVC placement procedure that could lead to major ...
Mohamed Amine Rahil, Messaoud Hadjmhamed
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Pediatric Nephrology, 2010 Nephronophthisis (NPHP) is an autosomal recessive cystic kidney disease and the most frequent genetic cause of end-stage renal disease up to the third decade of life. It is caused by mutations in 11 different genes, denoted nephrocystins (NPHP1-11, NPHP1L).
Matthias T F, Wolf +1 more
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Journal of the American Society of 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
Stephan J. Froehlich +87 more
+5 more sources