| Nephronophthisis | |
|---|---|
 | |
| Nephronophthisis has anautosomal 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 agenetic disorder of thekidneys which affects children.[3] It is classified as amedullary cystic kidney disease. The disorder is inherited in anautosomal recessive fashion and, although rare, is the most common genetic cause of childhood kidney failure. It is a form ofciliopathy.[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]
Infantile, juvenile, and adolescent forms of nephronophthisis have been identified. Although the range of characterizations is broad, people affected by nephronophthisis typically present withpolyuria (production of a large volume of urine),polydipsia (excessive liquid intake), and after several months to years,end-stage kidney disease, a condition necessitating eitherdialysis or akidney transplant in order to survive.[1] Some individuals with nephronophthisis also have so-called "extra-renal symptoms" which can include tapetoretinal degeneration, liver problems,oculomotor apraxia, and cone-shapedepiphysis (Saldino-Mainzer syndrome).[6][7]
Nephronophthisis is characterized by fibrosis and the formation ofcysts at the cortico-medullary junction, it is an autosomal recessive disorder which eventually leads to terminal kidney failure.[8]
Mechanism of nephronophthisis indicates that all proteins mutated in cystic kidney diseases express themselves in primary cilia.NPHP gene mutations cause defects in signaling resulting in flaws of planar cell polarity. The ciliary theory indicates that multiple organs are involved in NPHP (retinal degeneration,cerebellar hypoplasia, liver fibrosis, andintellectual disability).[9]
Nephronophthisis is aciliopathy. Other known ciliopathies includeprimary ciliary dyskinesia,Bardet–Biedl syndrome,polycystic kidney andliver disease,Alström syndrome,Meckel–Gruber syndrome and some forms ofretinal degeneration.[10]
NPHP2 is an infantile type of nephronophthisis and sometimes associated with situs inversus this can be explained by its relation with inversin gene. NPHP1, NPHP3, NPHP4, NPHP5, and NPHP6 are sometimes seen withretinitis pigmentosa, this particular association has a name, Senior-Loken syndrome.[11]
The diagnosis of nephronophthisis can be obtained via a kidneyultrasound, family history and clinical history of the affected individual according to Stockman, et al.[2]
The management of this condition can be done via-improvement of anyelectrolyte imbalance, as well as,high blood pressure andlow red blood cell counts (anemia) treatment as the individual's condition warrants.[2]
Nephronophthisis occurs equally in both sexes and has an estimate 9 in about 8 million rate in individuals. Nephronophthisis is the leading monogenic cause of end-stage kidney disease in the first three decades of life.[12]
{{cite book}}:|work= ignored (help)update 2016
