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Nephronophthisis 9



  • Genetic abnormalities are carefully presented within the appropriate physiologic context so that readers will understand not only which genes are linked to which diseases but also which pathways lead from a genetic “disturbance” to the systemic appearance[books.google.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]
  • 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]
  • SUMMARY The authors present a case of a 15-year-old girl with Leber's congenital amaurosis with associated nephronophthisis.[healio.com]
  • The phenotypic presentation ranged from a Potter-like syndrome to hyperechogenic kidneys, renal insufficiency, hypertension, and hyperkalemia.[ncbi.nlm.nih.gov]
  • In a Turkish patient with isolated NPHP7, Halbritter et al. (2013) identified a homozygous mutation in the GLIS2 gene (C175R; 608539.0002).[ncbi.nlm.nih.gov]
  • 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]
  • 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
  • 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]


  • Genetic analysis is highly indicated in order to identify causative mutations, assist with further syndromatic workup and help with prognosis.[renalandurologynews.com]
  • 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]
  • […] therapy輸液療法 fluorography造影透視 fragmentation破砕 frontal lobe 前頭葉 g gamete配偶子、生殖体 genital warts外陰部疣贅 genitourinary尿生殖器の germ cell tumors精細胞腫瘍 glomerular disease糸球体疾患 glomerular filtration rate (GFR)糸球体濾過量 glomerulonephritis糸球体腎炎 glomerulus (pl. glomeruli)糸球体 glycosuria[tokyo-med.ac.jp]
  • 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]
  • […] postulate仮定、仮説 pregnancy妊娠 prerenal failure腎前性腎不全 prostate前立腺 prostate cancer前立腺癌 prostate-specific antigen (PSA)前立腺特異抗原 proteinuria蛋白尿 proximal tubule近位尿細管 psychological精神的な puberty思春期 pudendal外陰部の pudendal nerve 陰部神経 pyelonephritis腎盂腎炎 pyeloplasty腎盂形成術 pyuria[tokyo-med.ac.jp]
  • 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]


  • 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]
  • 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]


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


  • 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]
  • 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]
  • 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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