Nephronophthisis has an autosomal recessive pattern of inheritance.
Specialty
Medical genetics
Symptoms
Polyuria[1]
Types
Infantile, Juvenile and Adult NPH[2]
Diagnostic method
Renal ultrasound[2]
Treatment
Hypertension and anemia management[2]
Nephronophthisis is a genetic disorder of the kidneys which affects children.[3] It is classified as a medullary cystic kidney disease. The disorder is inherited in an autosomal recessive fashion and, although rare, is the most common genetic cause of childhood kidney failure. It is a form of ciliopathy.[4] Its incidence has been estimated to be 0.9 cases per million people in the United States, and 1 in 50,000 births in Canada.[5]
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^"Nephronophthisis". Genetics Home Reference. Retrieved 2015-08-08.
^Hurd TW, Hildebrandt F (2011). "Mechanisms of nephronophthisis and related ciliopathies". Nephron Exp. Nephrol. 118 (1): e9–e14. doi:10.1159/000320888. PMC 2992643. PMID 21071979.
^page 831, Chapter 35, in: Avner, Ellis D.; Harmon, William; Niaudet, Patrick; Yoshikawa, Norishige (2009-08-20). Pediatric Nephrology (Avner, Pediatric Nephrology). Springer. ISBN 978-3-540-76327-7. (stating the incidence in the United States as 9 per 8.3 million people.
adolescent forms of nephronophthisis have been identified. Although the range of characterizations is broad, people affected by nephronophthisis typically present...
Juvenile nephronophthisis is the juvenile form of nephronophthisis that causes end stage kidney disease around the age of 13; infantile nephronophthisis and...
show progressive kidney atrophy and display symptoms similar to human nephronophthisis. Glis2 plays an essential role in the maintenance of renal tissue through...
1997). "A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1". Nat Genet. 17 (2): 149–53. doi:10.1038/ng1097-149. PMID 9326933...
dyskinesia, Bardet–Biedl syndrome, polycystic kidney and liver disease, nephronophthisis, Alström syndrome, Meckel–Gruber syndrome and some forms of retinal...
pattern. Mutations in XPNPEP3 gene have been identified as a cause of a nephronophthisis-like disease. The XPNPEP3 gene is located at chromosome 22q13.2, consisting...
syndrome, polycystic kidney disease and polycystic liver disease, nephronophthisis, Alström syndrome, Meckel–Gruber syndrome and some forms of retinal...
domain 3 (SH3) patterns. Mutations in this gene cause familial juvenile nephronophthisis. NPHP1 has been shown to interact with BCAR1, PTK2B, Filamin and INVS...
been identified to have causal effect in polycystic kidney disease, nephronophthisis, Senior–Løken syndrome type 5, orofaciodigital syndrome type 1 and...
dyskinesia, Bardet–Biedl syndrome, polycystic kidney and liver disease, nephronophthisis, Alström syndrome, Meckel–Gruber syndrome, and some forms of retinal...
transfer protein MgtE Mutations in this gene have been associated to Nephronophthisis-like phenotypes. GRCh38: Ensembl release 89: ENSG00000133065 – Ensembl...
progression from G2 to M phase. Mutations in the NEK8 gene associated with nephronophthisis. GRCh38: Ensembl release 89: ENSG00000160602 – Ensembl, May 2017 GRCm38:...
malfunction can cause diseases such as polycystic kidney disease, nephronophthisis and Bardet-Biedl syndrome. Proteins employed in the cilia are targeted...
syndrome, polycystic kidney disease and polycystic liver disease, nephronophthisis, Alström syndrome, Meckel–Gruber syndrome and some forms of retinal...
syndrome, Joubert syndrome, cone-rod dystrophy, Meckel syndrome, and nephronophthisis. Regulation of basal body production and spatial orientation is a function...
action for several genes mutated in human cystic kidney disorders (e.g. nephronophthisis) have been extensively studied in Xenopus embryos, shedding new light...
Defects in this gene are a cause of Meckel syndrome type 3 (MKS3), nephronophthisis and Joubert syndrome type 6 (JBTS6). Meckel syndrome GRCh38: Ensembl...
development and function. Mutations in this gene are associated with nephronophthisis type 3. Multiple splice variants have been described but their full-length...
Mutations in this gene have been associated with Joubert syndrome and nephronophthisis, and recently with a frequent form of Leber's congenital amaurosis...
identified the genetic cause of UKD as mutations in the MUC1 gene. Nephronophthisis "Medullary Cystic Disease Treatment & Management: Medical Care, Surgical...
enlarged spleen. Kidney complications in the form of polycystic kidney or nephronophthisis is estimated to affect 77% of patients with COACH syndrome, and is...
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