Our study provides a rare presentation of NPHP3-related ciliopathy and adds to the mutation spectrum of the gene, being the first one from Pakistani population. [ncbi.nlm.nih.gov]

Presentation History A family history of consanguinity, early death, or renal disease is present in 67% of patients with nephronophthisis (NPH). [emedicine.medscape.com]

Presentation This results from gradual tubular injury. [ 1 ] Clinical features Polyuria - decreased concentrating ability with loss of sodium. Polydipsia. Growth retardation. Secondary enuresis. Renal impairment. [patient.info]

In contrast the ADTKD-spectrum disorders follow an autosomal-dominant mode of inheritance and are present in every generation of a given pedigree. [renalandurologynews.com]

• Psychomotor Retardation

  […] syndrome - Oculomotor apraxia Senior-Loken syndrome - Retinitis pigmentosa Mainzer-Saldino syndrome - Liver fibrosis, bone dysplasia Joubert syndrome - Coloboma or retinal degeneration, nystagmus, ptosis, aplasia of cerebellar vermis with ataxia and psychomotor [emedicine.medscape.com]

• Onset in Adolescence

  Three clinical variants based on age of onset for end stage renal disease (ESRD): infantile: before 2 years of age juvenile (a.k.a. nephronophthisis): most common form, age of onset 10 adolescent (a.k.a. medullary cystic kidney disease): usually develops [radiopaedia.org]

• Kidney Failure

  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. [en.wikipedia.org]

  leading to chronic kidney disease with kidney failure. [merckmanuals.com]

  Although rare, NPHP is the most common genetic cause of kidney failure in the first two decades of life. Other than dialysis or a kidney transplant, there is no treatment and no cure for NPHP. [sciencedaily.com]

  Kidney failure Spasticity Underdeveloped cerebellum Weak arms Weak legs Prevention - Nephronophthisis familial adult spastic quadriparesis Not supplied. [checkorphan.org]

  Example - the heart is present on the right side, liver on the left side, etc. resulting in related symptoms End-stage renal disease by age 1 Kidney failure by age 3 years - the signs and symptoms of kidney failure include: Tiredness Swollen face, ankles [dovemed.com]

Genetic analysis is highly indicated in order to identify causative mutations, assist with further syndromatic workup and help with prognosis. [renalandurologynews.com]

Treatment Treatment Options: No treatment beyond renal transplantation is available. Low vison aids can be helpful in some patients. [disorders.eyes.arizona.edu]

Always seek professional medical advice about any treatment or change in treatment plans. Kidney transplant Resources - Nephronophthisis familial adult spastic quadriparesis Not supplied. [checkorphan.org]

Management and treatment At present, there is no treatment for preventing progression to end-stage renal failure. Last updated: 2/14/2007 [rarediseases.info.nih.gov]

545 Dialysis ultrafiltration and hemofiltration 555 Use of drugs in uremia and dialysis 567 Donor and recipient selection in renal transplantation 587 Immunosuppression and treatment of rejection in renal transplantation 595 XIII 606 Renal tubular and [books.google.com]

Thorough review of the clinical phenotypes, their presentations, treatment, potential complications of, and prognosis is discussed. [books.google.ro]

Thorough review of the clinical phenotypes, their presentations, treatment, potential complications of, and prognosis is discussed. [books.google.ro]

(Outcomes/Resolutions) The prognosis of Infantile Nephronophthisis is typically guarded. [dovemed.com]

Treat associated renal failure - usually haemodialysis followed by renal transplantation (the illness does not recur in the transplanted kidney). [ 1, 2 ] Prognosis Most children will develop renal failure by mean age of 13 years. [patient.info]

KIAA0678 was considered a good functional candidate gene for NPH3 and SLS3, because molecular cha- perones are involved in the etiology of renal and retinal diseases. Analysis of the genomic structure of KIAA0678 identified 25 exons. [ncbi.nlm.nih.gov]

Etiology Five genes associated with the disease have been identified. The first gene, NPHP1, has been mapped to chromosome 2q13. [rarediseases.info.nih.gov]

Chapter 41 Laparoscopic management of duplication anomalies 649 anatomic and functional basis of etiology 655 Chapter 43 Nonsurgical management of vesicoureteral reflux 663 Chapter 44 Surgery for vesicoureteral reflux 673 Chapter 45 Minimally invasive [books.google.com]

[…] recessive and patients develop end-stage renal failure (ESRF) by adolescence. [ 1, 2 ] The protein products, named nephrocystins, which become abnormal in this disorder, have primarily a function in cilial structures (making it a ' ciliopathy '). [ 3 ] Epidemiology [patient.info]

Epidemiology Prevalence is 1/100 000 individuals. Clinical description The disease is both clinically and genetically heterogeneous. Three main clinical forms have been described. [rarediseases.info.nih.gov]

Epidemiology: 10% of children with end-stage renal disease are suffering from nephronophthisis Nephronophthisis is the most common form of inherited renal failure before the age of 30 years. [urology-textbook.com]

Relevant External Links for NPHP3 Genetic Association Database (GAD) NPHP3 Human Genome Epidemiology (HuGE) Navigator NPHP3 Atlas of Genetics and Cytogenetics in Oncology and Haematology: NPHP3 No data available for Genatlas for NPHP3 Gene Mutations in [genecards.org]

[…] general Group of autosomal recessive disorders characterized by corticomedullary cysts, atrophy and interstitial fibrosis "Phthisis" (Greek): dwindling or wasting away Also referred to as juvenile nephronophthisis medullary cystic kidney disease complex Epidemiology [pathologyoutlines.com]

Fibrocystic Diseases of the Liver will be an invaluable resource for hepatologists, gastroenterologists, nephrologists, and hepatic surgeons who care for children and adults with liver disease, as well as basic scientists in molecular genetics, hepatobiliary pathophysiology [books.google.ro]

All diseases mentioned above ground on the same pathophysiological mechanism: the genes causing renal cysts encode for proteins in the primary cilium, a cellular antennae like organelle projecting from the cell surface of most cells. [neocyst.de]

"Mutations in NPHP genes prevent cilia from functioning properly, causing damage that leads to kidney disease." These important sensors aren't confined to the kidneys, however. [sciencedaily.com]

Currently, there are no specific methods or guidelines to prevent the Adolescent Nephronophthisis, since it is a genetic condition Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus [dovemed.com]

Management and treatment At present, there is no treatment for preventing progression to end-stage renal failure. Last updated: 2/14/2007 [rarediseases.info.nih.gov]

The electrolyte loss prevents hypertension. End-stage renal disease occurs 5–10 years after onset of symptoms. Infantile nephronophthisis Infantile nephronophthisis leads to end-stage renal disease before the age of 5 years. [urology-textbook.com]