Edit concept Question Editor Create issue ticket

Nephronophthisis 3

NPHP3


Presentation

  • 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]
  • Thorough review of the clinical phenotypes, their presentations, treatment, potential complications of, and prognosis is discussed.[books.google.ro]
  • Using whole and targeted exome sequencing, we identified novel protein altering mutations in TRAF3IP1 in patients presenting with NPH, retinitis pigmentosa, skeletal defects of the pelvis, hexadactyly and hepatic fibrosis.[ciliajournal.biomedcentral.com]
  • Presentation History A family history of consanguinity, early death, or renal disease is present in 67% of patients with nephronophthisis (NPH).[emedicine.medscape.com]
Macula
  • With time, the pigmentary abnormality is more evident, until it becomes a full-blown pigmentary retinopathy.6,7,13 Pathologic findings in the literature include an irregular pattern and sometimes a total absence of intact photoreceptors in the macula[healio.com]
Retinal Lesion
  • It is not yet known whether retinal lesions are a regular feature of FJN when survival is long enough to allow their development, or whether there are at least two genetic forms of FJN, in only one of which ocular lesions are present.[healio.com]
Enophthalmos
  • Ocular examination revealed enophthalmos OU, poor light perception, intraocular pressure of 15 mmHg, sluggish direct and consensual pupillary responses, photophobia, and pendular nystagmus.[healio.com]
Unable to Walk
  • On admission the girl had signs of severe rickets, and was moving around in a wheelchair because she was unable to walk. Her blood pressure was normal (110/70).[healio.com]
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]
  • Dialysis or kidney transplantation may be needed to address kidney failure.[merckmanuals.com]
  • What's especially interesting, according to Hildebrandt, is that similar molecular mechanisms appear to cause both blindness and kidney failure.[sciencedaily.com]
  • The chronic kidney failure affects growth and leads to short stature. The age at death ranges from around 4 to 15 years. The disease is also called nephronophthisis 1 (NPH1) and autosomal recessive medullary cystic kidney disease.[medicinenet.com]
  • As the disease progresses, kidney failure develops. Treatment may involve taking medicines and diet changes, limiting foods containing phosphorus and potassium. You may need dialysis and a kidney transplant.[medlineplus.gov]

Workup

  • Genetic analysis is highly indicated in order to identify causative mutations, assist with further syndromatic workup and help with prognosis.[renalandurologynews.com]
Glycosuria
  • There was normal urinalysis, no hematuria, no glycosuria, no ketonuria, normal excretion of protein in 24-hour urine specimen, low urinary specific gravity, and normal urine cultures.[healio.com]
Pyuria
  • The main findings in this case are: congenital blindness; enophthalmos; photophobia; nystagmus; keratoconus; cataracts; pigmentary degeneration in the fundus of both eyes; progressive uremia with absence of hematuria, proteinuria, pyuria, and glycosuria[healio.com]
Ketonuria
  • There was normal urinalysis, no hematuria, no glycosuria, no ketonuria, normal excretion of protein in 24-hour urine specimen, low urinary specific gravity, and normal urine cultures.[healio.com]
Microcytic Anemia
  • Laboratory Findings Hemogram showed a moderate hypochromic, microcytic anemia, and eosinophilia (reverted to normal after treatment of ascaris and Trichuris trichiura).[healio.com]

Treatment

  • 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]
  • Infantile NPH Juvenile NPH Adult NPH The management of this condition can be done via-improvement of any electrolyte imbalance, as well as, high blood pressure and low red blood cell counts (anemia) treatment as the individual's condition warrants.[en.wikipedia.org]

Prognosis

  • Thorough review of the clinical phenotypes, their presentations, treatment, potential complications of, and prognosis is discussed.[books.google.ro]
  • 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]
  • (Outcomes/Resolutions) The prognosis of Infantile Nephronophthisis is typically guarded.[dovemed.com]

Etiology

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

Epidemiology

  • 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]
  • […] 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: 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]
  • 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]
  • 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]
Sex distribution
Age distribution

Pathophysiology

  • 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]
  • More than 2,000 disease genes have been identified in the last 20 years, providing important new insight into the pathophysiology of diseases in every field of medicine.[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]

Prevention

  • 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.ro]
  • "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]
  • 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]

Ask Question

5000 Characters left Format the text using: # Heading, **bold**, _italic_. HTML code is not allowed.
By publishing this question you agree to the TOS and Privacy policy.
• Use a precise title for your question.
• Ask a specific question and provide age, sex, symptoms, type and duration of treatment.
• Respect your own and other people's privacy, never post full names or contact information.
• Inappropriate questions will be deleted.
• In urgent cases contact a physician, visit a hospital or call an emergency service!