Edit concept Question Editor Create issue ticket

Nephronophthisis 16

NPHP16


Presentation

  • Leading experts from Latin America, Africa, Near and Middle East, Indian Subcontinent, Far East, Oceania and Australia present their expert insights into specific conditions, as well as progress and challenges in the development of the specialty.[books.google.com]
  • Juvenile NPH, the most prevalent subtype, typically presents with polydipsia and polyuria, growth retardation, chronic iron-resistant anemia, or other findings related to chronic kidney disease (CKD).[ncbi.nlm.nih.gov]
  • Acronym NPHP16 Keywords Any medical or genetic information present in this entry is provided for research, educational and informational purposes only.[uniprot.org]
  • There was no other remarkable change in his life until his presentation to our department.[academic.oup.com]
Respiratory Abnormalities
  • The son was delivered normally without any respiratory abnormality, and from his first months of life had pendular nystagmus.[academic.oup.com]
Mild Clinical Course
  • If one accepts that our patients suffered from this condition with delayed onset, the relatively mild clinical course might possibly point to an environmental factor playing a beneficial role in delaying the progression to end‐stage renal disease.[academic.oup.com]
Liver Dysfunction
  • Liver enzymology, CT, and MRI of the upper abdomen gave no evidence of liver dysfunction. The ophthalmologic examination showed nystagmus, difficulty in nocturnal vision with severe visual impairment (1/10 of normal vision).[academic.oup.com]
Abnormal Eye Movement
  • Familial agenesis of the cerebellar vermis: a syndrome of episodic hyperpnoea, abnormal eye movements, ataxia and retardation. Neurology 1969 ; 19 : 813 –825 10 Verloes A, Lambotte C.[academic.oup.com]

Workup

  • Topics include: Non-neoplastic diseases in kidney cancer; Nephrectomy for non-neoplastic causes; Autopsy renal pathology; Practical approach to kidney donation workup; Kidney allograft pathology; Renal infections; Amyloidosis - all subtypes; Histologic[books.google.com]

Treatment

  • Seite 935 - In utero surgical treatment of fetal obstructive uropathy: a new comprehensive approach to identify appropriate candidates for vesicoamniotic shunt therapy. Am J Obstet Gynecol 170: 1770-6. ‎[books.google.de]
  • It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice .[uniprot.org]
  • Piyush Misra MBBS, MD General Physician - Specializes in Treatment of Nephronophthisis 1A 401, AWHO, Greater Noida Greater Noida, Greater Noida Dr.[lybrate.com]
  • Interventional study (clinical trial) — studies new tests, treatments, drugs, surgical procedures or devices.[mayo.edu]

Prognosis

  • (Outcomes/Resolutions) The prognosis of Juvenile Nephronophthisis is typically guarded.[dovemed.com]
  • Therefore NPH counts among the group of ciliopathies progress and prognosis Depending on the form of NPH progress of chronic renal failure.[neocyst.de]
  • The aim of this registry is to carefully document both retro-and prospectively the disease progression and develop a consensus on the prevalence and prognosis in different age groups.[medizin.uni-muenster.de]
  • 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]

Etiology

  • Etiology Five genes associated with the disease have been identified. The first gene, NPHP1, has been mapped to chromosome 2q13.[orpha.net]
  • The etiology of nephronophthisis is obscure but a likely possibility is that the renal damage results from an inborn metabolic error. 1977 S.[karger.com]
  • Family history revealed that the patient had an older brother who died at the age of six years from renal failure of unknown etiology. He was on peritoneal dialysis for a year before his death.[sjkdt.org]
  • Etiology König J, Kranz B, König S, Schlingmann KP, Titieni A, Tönshoff B, Habbig S, Pape L, Häffner K, Hansen M, Büscher A, Bald M, Billing H, Schild R, Walden U, Hampel T, Staude H, Riedl M, Gretz N, Lablans M, Bergmann C, Hildebrandt F, Omran H, Konrad[ncbi.nlm.nih.gov]
  • […] interstitial fibrosis renal tubular atrophy relatively spared glomeruli nephronophthisis-associated hepatic disease nephronophthisis-associated congenital hepatic fibrosis hepatic fibrosis Variants autosomal recessive form autosomal dominant form (MIM.174000) Etiology[humpath.com]

Epidemiology

  • Nephrotoxins 1275 Urinary Tract Infections 1299 Vesicoureteral Reflux and Renal Scarring 1311 Obstructive Uropathy 1337 Bladder Dysfunction in Children 1379 Urolithiasis 1405 Pediatric Renal Tumors 1431 Epidemiology of Hypertension 1459 Pathophysiology[books.google.de]
  • […] 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]
  • 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]
  • "Alagille Syndrome: Background, Pathophysiology, Epidemiology" . reference.medscape.com . Retrieved 2016-12-23 . Reference, Genetics Home. "Alagille syndrome" . Genetics Home Reference . Retrieved 2016-12-23 .[en.wikipedia.org]
  • Nephronophthisis in Finland: epidemiology and comparison of genetically classified subgroups. Eur J Hum Genet 1999; 7: 205-11. 18. Hildebrandt F, Singh-Sawhney I, Schnieders B, et al.[sjkdt.org]
Sex distribution
Age distribution

Pathophysiology

  • Brenner/Rector remains the go-to resource for practicing and training nephrologists and internists who wish to master basic science, pathophysiology, and clinical best practices.[books.google.com]
  • Nephrotoxins 1275 Urinary Tract Infections 1299 Vesicoureteral Reflux and Renal Scarring 1311 Obstructive Uropathy 1337 Bladder Dysfunction in Children 1379 Urolithiasis 1405 Pediatric Renal Tumors 1431 Epidemiology of Hypertension 1459 Pathophysiology[books.google.de]
  • We show that NPHP3 mutations in both infantile and adolescent nephronophthisis point to a common pathophysiological mechanism despite their different clinical presentations.[hungary.pure.elsevier.com]
  • The aim of this project is to characterize the role of the ANKS3-BICC1-ANKS6 complex in the pathophysiological mechanisms of renal cystic diseases, mainly based on analysis of the effects of patient and rodent model mutations on various cellular processes[sbcf.fr]

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.de]
  • Currently, there are no specific methods or guidelines to prevent the Juvenile 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]
  • For long term storage store at -20C in small aliquots to prevent freeze-thaw cycles. Concentration: Approximately 0.5mg/ml. Actual concentration varies with each lot.[avivasysbio.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]

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!