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Nephronophthisis 13

NPHP13


Presentation

  • A homozygous NPHP1 deletion not only led to juvenile nephronophthisis but also was able to present as a predominantly neurologic phenotype.[ncbi.nlm.nih.gov]
  • Presentation History A family history of consanguinity, early death, or renal disease is present in 67% of patients with nephronophthisis (NPH).[emedicine.medscape.com]
  • This study assessed mutations of the NPHP1 gene in 16 Iranian families with at least one member presenting features of nephronophthisis.[ncbi.nlm.nih.gov]
  • 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]
  • The pleiotropy in NPHP is explained by the finding that almost all NPHP gene products share expression in primary cilia, a sensory organelle present in most mammalian cells.[ncbi.nlm.nih.gov]
Turkish
  • We report on a Turkish family with clinical signs of nephronophthisis. The phenotype occurred in two generations and therefore seemed to be inherited in an autosomal dominant pattern.[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]
  • ALLELIC VARIANTS 9 Selected Examples): .0001 SENIOR-LOKEN SYNDROME 5 IQCB1, ARG461TER rs121918244 In affected members of a consanguineous Turkish family with Senior-Loken syndrome-5 (SLSN5; 609254), Otto et al. (2005) identified a homozygous C-to-T transition[ncbi.nlm.nih.gov]
  • Fiskerstrand et al. (2010) noted the phenotypic similarities to the Turkish patients reported by Bergmann et al. (2008). .0005 MECKEL SYNDROME, TYPE 7 NPHP3, ARG577TER rs119456962 In 2 African brothers (family 888), one of whom died at age 49 days and[ncbi.nlm.nih.gov]
  • Valente et al. (2006) found the G1890X mutation in homozygosity in a Turkish JBTS family.[ncbi.nlm.nih.gov]
Retinal Lesion
  • Additional lesions and other abnormalities, including retinal lesions, mental retardation, cerebellar and osseous abnormalities, have been reported in some patients.[ncbi.nlm.nih.gov]
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
  • 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]

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]
  • […] 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]
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]
  • […] 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]
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

  • The treatment reduced cyst enlargement, and the early treatment inhibited development of renal fibrosis. Although the effect of later treatment was more modest, both stages of the disease responded positively to treatment.[ncbi.nlm.nih.gov]
  • We suggest that isosorbide dinitrate may represent a disease-modifying agent in nephronophthisis treatment.[ncbi.nlm.nih.gov]
  • 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]
  • 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 Treatment Options: No treatment beyond renal transplantation is available. Low vison aids can be helpful in some patients.[disorders.eyes.arizona.edu]

Prognosis

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

  • In this review, we discuss the identified causative mutations that give rise to nephronophthisis and how these are related to the disease etiology in both the kidney and other organs.[ncbi.nlm.nih.gov]
  • Its etiology is suggested to be multifactorial, consisting of genetic susceptibility and unknown exogenous factors. We present two siblings with NPH and ulcerative colitis.[ncbi.nlm.nih.gov]
  • Gov't Review MeSH terms Child Cilia/pathology Cilia/physiology Genes, Recessive* Humans Kidney Diseases, Cystic*/congenital Kidney Diseases, Cystic*/etiology Kidney Diseases, Cystic*/genetics Kidney Diseases, Cystic*/pathology Kidney Diseases, Cystic*[ncbi.nlm.nih.gov]
  • 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]

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]
  • 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]
  • […] 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]
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.com]
  • 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]
  • Because of similarities in the pathophysiology of multiple myeloma and Waldenstrom's macroglobulinaemia (WM), we investigated DNA samples from 20 bone marrow biopsies with WM for the detection of KSHV by PCR (KS330/ ORF26 ) [4] .[wikigenes.org]
  • 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]
  • 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]
  • TSL:5 WDR19-209 ENST00000507228.1 571 135aa ENSP00000421401 - H0Y8K9 - 5' truncation in transcript evidence prevents annotation of the start of the CDS.[ensembl.org]

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