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Nephronophthisis 2

NPHP2


Presentation

  • The kidney sizes were highly diverse and ultrasound-visualized cysts were present in a minority of cases.[ncbi.nlm.nih.gov]
  • Thorough review of the clinical phenotypes, their presentations, treatment, potential complications of, and prognosis is discussed.[books.google.com]
  • There was no other remarkable change in his life until his presentation to our department.[academic.oup.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]
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]
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]
Strabismus
  • Cataract,2,8-10 keratoconus,2,8,9,11 strabismus,4 nystagmus,4,8 high myopia,1,2 photophobia, and keratoglobus2,6,8 are the most commonly associated ocularfindings.[healio.com]
Arthritis
  • Cases Case 1 A male patient was referred to our department on August 1999 because of severe renal impairment, which was discovered after an episode of acute gouty arthritis of his left toe.[academic.oup.com]
  • Arthritis Rheum 2000. 43: 925-9. 47. Hart TC, Gorry MC, Hart PS, et al. Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy. J Med Genet 2002;39:882-92.[sjkdt.org]
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]
Pendular Nystagmus
  • The son was delivered normally without any respiratory abnormality, and from his first months of life had pendular nystagmus.[academic.oup.com]
  • 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]
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]
  • failure Weak legs Weak arms Spasticity Underdeveloped cerebellum Anemia Excessive urination Excessive thirst Causes - Nephronophthisis familial adult spastic quadriparesis Abnormal kidney development Anemia Excessive thirst Excessive urination Kidney[checkorphan.org]
  • 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]
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

  • Thorough review of the clinical phenotypes, their presentations, treatment, potential complications of, and prognosis is discussed.[books.google.com]
  • 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]
  • 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]
  • Treatment Treatment Options: No treatment beyond renal transplantation is available. Low vison aids can be helpful in some patients.[disorders.eyes.arizona.edu]

Prognosis

  • Thorough review of the clinical phenotypes, their presentations, treatment, potential complications of, and prognosis is discussed.[books.google.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]
  • (Outcomes/Resolutions) The prognosis of Adolescent 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]

Etiology

  • 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.[orpha.net]
  • However, it is not clear whether the primary etiology of NPHP is due to abnormal cell polarity or cilia dysfunction.[doi.org]
  • (Etiology) Adolescent Nephronophthisis is an inherited genetic disorder, and the inheritance pattern is autosomal recessive.[dovemed.com]

Epidemiology

  • […] 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]
  • […] 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]
  • 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

  • We show that NPHP3 mutations in both infantile and adolescent nephronophthisis point to a common pathophysiological mechanism despite their different clinical presentations. [Indexed for MEDLINE] Free full text[ncbi.nlm.nih.gov]
  • 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]

Prevention

  • "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]
  • 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]
  • 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]

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