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

Infantile : bilateral disease due to cortical cysts with renal failure by 3 years of age; may have extrarenal presentation including retinitis pigmentosa, hepatic fibrosis, skeletal / CNS malformations, situs inversus, etc. [pathologyoutlines.com]

Management and treatment At present, there is no treatment for preventing progression to end-stage renal failure. The documents contained in this web site are presented for information purposes only. [orpha.net]

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]

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

• Anemia

  In contrast to other renal diseases in which the degree of anemia depends on the stage of renal insufficiency, in nephronophthisis, the severity of the anemia exceeds the degree of renal insufficiency. [emedicine.medscape.com]

  […] nephronophthisis [ nef″ron-of´thĭ-sis ] wasting disease of the kidney substance. familial juvenile nephronophthisis a progressive hereditary kidney disease marked by anemia, polyuria, renal loss of sodium, progressing to chronic renal failure, tubular [medical-dictionary.thefreedictionary.com]

  Controlling high blood pressure Managing anemia Maintaining appropriate levels of sodium and uric acid in blood Treatment includes controlling high blood pressure, anemia, and levels of sodium and uric acid in the body. [merckmanuals.com]

  […] of signs and symptoms mentioned in various sources for Nephronophthisis familial, adult - spastic quadriparesis includes the 9 symptoms listed below: Abnormal kidney development Kidney failure Weak legs Weak arms Spasticity Underdeveloped cerebellum Anemia [checkorphan.org]

  Nephronophthisis is characterized by progressive destruction of the kidney tissue that leads to anemia (low levels of red blood cells), polyuria (frequent... read more [wellness.com]

• Disability

  The ciliary theory indicates that multiple organs are involved in NPHP (retinal degeneration, cerebellar hypoplasia, liver fibrosis, and intellectual disability). Nephronophthisis is a ciliopathy. [en.wikipedia.org]

  Please enable JS and disable any ad blocker [cairn.info]

  […] and sclerotic glomerli, interstitial fibrosis, atrophic tubules and chronic inflammation (PAS) Molecular / cytogenetics description Mutations in NPHP2 and NPHP3 genes ( Kidney Int 2009;75:839 ), also associated with retinitis pigmentosa, intellectual disability [pathologyoutlines.com]

  People with nephronophthisis may have eye disorders, liver disorders, and intellectual disability (mental retardation). Later in childhood, chronic kidney disease may cause anemia, high blood pressure, nausea, and weakness. [merckmanuals.com]

  Extra-renal findings can include retinal degeneration, retinitis pigmentosa, cerebellar vermis hypoplasia, intellectual disability, ataxia, liver fibrosis, ventricular septal defect, molar tooth sign, and cone-shaped epiphyses. [invitae.com]

• Polydipsia

  Clinical findings Chronic renal failure, anaemia, polyuria, polydipsia, isosthenuria and growth retardation. nephronophthisis wasting disease of the kidney substance. [medical-dictionary.thefreedictionary.com]

  The onset is typically marked by polydipsia and polyuria as a result of a defect in urine concentration. [dnatesting.uchicago.edu]

  Familial juvenile nephronophthisis (FJN): A childhood genetic kidney disease in which there is progressive symmetrical destruction of the kidneys involving both the tubules and glomeruli, characteristically resulting in anemia, polyuria, polydipsia, isosthenuria [medicinenet.com]

  There is no recognized gender predilection Presentation with polydipsia and polyuria, due to initial tubular injury, tends to progress to end stage renal failure, growth retardation, lethargy. [radiopaedia.org]

  Patients exhibit with polyuria, polydipsia, anemia and growth retardation. [athenadiagnostics.com]

• Diarrhea

  Página 54 - Pedigree demonstrating a sex-linked recessive condition characterized by draining ears, eczematoid dermatitis and bloody diarrhea. ‎ Página 51 - Selective IgA deficiency: presentation of 30 cases and a review of the literature. ‎ [books.google.es]

• Liver Fibrosis

  Boichis H et. al. (1973) Congenital hepatic fibrosis and nephronophthisis. A family study. [^] 2. Otto EA et. al. (2009) Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). [^] Update: 26. [moldiag.com]

  NPHP can also present with additional extrarenal manifestations, including retinitis pigmentosa (Senior-Loken syndrome, Bardet-Biedl sydnrome, Alstrom syndrome), liver fibrosis, cerebellar vermis hypoplasia (Joubert syndrome), and multiple developmental [dnatesting.uchicago.edu]

  Extrarenal manifestations occur in 10–15% including retinal degeneration, cerebellar vermis hypoplasia and liver fibrosis, requiring referral to other specialists. [oxfordmedicine.com]

  The ciliary theory indicates that multiple organs are involved in NPHP (retinal degeneration, cerebellar hypoplasia, liver fibrosis, and intellectual disability). Nephronophthisis is a ciliopathy. [en.wikipedia.org]

  Liver fibrosis. Differential diagnosis Polycystic kidney disease Chronic pyelonephritis Urinary tract obstruction Investigations Hyponatraemia may occur if sodium intake is reduced for any reason. Anaemia and metabolic acidosis are late features. [patient.info]

• Polyuria

  Clinical findings Chronic renal failure, anaemia, polyuria, polydipsia, isosthenuria and growth retardation. nephronophthisis wasting disease of the kidney substance. [medical-dictionary.thefreedictionary.com]

  Therapy with potassium chloride resulted in reduction of polyuria, increased rate of growth, and arrest of progression of renal insufficiency. [pediatrics.aappublications.org]

  Nephronophthisis is characterized by progressive destruction of the kidney tissue that leads to anemia (low levels of red blood cells), polyuria (frequent... read more [wellness.com]

  The onset is typically marked by polydipsia and polyuria as a result of a defect in urine concentration. [dnatesting.uchicago.edu]

  Familial juvenile nephronophthisis (FJN): A childhood genetic kidney disease in which there is progressive symmetrical destruction of the kidneys involving both the tubules and glomeruli, characteristically resulting in anemia, polyuria, polydipsia, isosthenuria [medicinenet.com]

• Ataxia

  Cerebellar ataxia (Joubert's syndrome). Liver fibrosis. Differential diagnosis Polycystic kidney disease Chronic pyelonephritis Urinary tract obstruction Investigations Hyponatraemia may occur if sodium intake is reduced for any reason. [patient.info]

  […] interstitial fibrosis, atrophic tubules and chronic inflammation (PAS) Molecular / cytogenetics description Mutations in NPHP2 and NPHP3 genes ( Kidney Int 2009;75:839 ), also associated with retinitis pigmentosa, intellectual disability, cerebellar ataxia [pathologyoutlines.com]

  Some children present with extrarenal symptoms: tapetoretinal degeneration (as in Senior-Loken syndrome, see this term), intellectual deficiency, cerebellar ataxia, bone anomalies or liver involvement. [orpha.net]

  It can be associated with retinitis pigmentosa (Senior-Løken syndrome), mental retardation and ataxia (Joubert syndrome), skeletal anomalies (Jeune syndrome), or situs inversus. [ciliajournal.biomedcentral.com]

• Cerebellar Ataxia

  Cerebellar ataxia (Joubert's syndrome). Liver fibrosis. Differential diagnosis Polycystic kidney disease Chronic pyelonephritis Urinary tract obstruction Investigations Hyponatraemia may occur if sodium intake is reduced for any reason. [patient.info]

  ataxia, bone anomalies and liver fibrosis Juvenile subtype associated with mutations in NPHP1 ( OMIM 256100 ) (chromosome 2q), 4 (chromosome 1p) Infantile subtype associated with NPHP2 (chromosome 9q) Adolescent subtype associated with NPHP3 (chromosome [pathologyoutlines.com]

  Some children present with extrarenal symptoms: tapetoretinal degeneration (as in Senior-Loken syndrome, see this term), intellectual deficiency, cerebellar ataxia, bone anomalies or liver involvement. [orpha.net]

  ataxia, oculomotor apraxia, psychomotor delay and neonatal breathing abnormalities, sometimes including retinal dystrophy and renal disease. [novusbio.com]

• Apraxia

  Some individuals that suffer from nephronophthisis also have so-called "extra-renal symptoms" which can include tapetoretinal degeneration, liver problems, ocularmotor apraxia, and cone-shaped epiphysis (Saldino-Mainzer syndrome). [en.wikipedia.org]

  […] associated with Senior-Loken syndrome type 1, also referred to as juvenile nephronophthisis with Leber amaurosis, which is characterized by kidney and eye disease, and with Joubert syndrome type 4, which is characterized by cerebellar ataxia, oculomotor apraxia [novusbio.com]

  Psychiatry related information on NPHP1 Children with ocular motor apraxia type Cogan carry deletions in the gene ( NPHP1 ) for juvenile nephronophthisis [4]. [wikigenes.org]

  Direct sequencing of the NPHP4 gene has been performed in 250 individuals, 190 with isolated NPH, 50 with RP and ten with oculomotor apraxia [ 67 ]. [dx.doi.org]

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

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]

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]

Management and treatment At present, there is no treatment for preventing progression to end-stage renal failure. The documents contained in this web site are presented for information purposes only. [orpha.net]

Treatment of Adolescent Nephronophthisis is based on the type and severity of symptoms. [dovemed.com]

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

(Outcomes/Resolutions) The prognosis of Adolescent 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]

Prognosis - Nephronophthisis familial adult spastic quadriparesis Not supplied. [checkorphan.org]

Therefore NPH counts among the group of ciliopathies progress and prognosis Depending on the form of NPH progress of chronic renal failure. [neocyst.de]

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

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]

However, it is not clear whether the primary etiology of NPHP is due to abnormal cell polarity or cilia dysfunction. [dx.doi.org]

(Etiology) Adolescent Nephronophthisis is an inherited genetic disorder, and the inheritance pattern is autosomal recessive. [dovemed.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]

[…] 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]

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]

Summary Epidemiology Prevalence is 1/100 000 individuals. Clinical description The disease is both clinically and genetically heterogeneous. Three main clinical forms have been described. [orpha.net]

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.com]

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]

The role of the vitamin K-dependent growth factor Gas6 in glomerular pathophysiology. Curr Opin Nephrol Hypertens. 13: 465-70, 2004. [kyoto-u-cardio.jp]

Report of three cases with further delineation of the clinical, pathophysiological, and genetic aspects of the disorder. Medicine (Baltimore) 1973; 52 :53–71. [ PubMed ] [ Google Scholar ] 133. Fath MA, et al. [ncbi.nlm.nih.gov]

"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]

Anemia Excessive urination Excessive thirst Causes - Nephronophthisis familial adult spastic quadriparesis Abnormal kidney development Anemia Excessive thirst Excessive urination Kidney failure Spasticity Underdeveloped cerebellum Weak arms Weak legs Prevention [checkorphan.org]

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]

How to use an article about therapy or prevention. B. What were the results and will they help me in caring for my patients? Evidence-Based Medicine Working Group. JAMA 1994;271:59-63. 79. [books.google.com]