- 同
- JN
WordNet
- of or relating to or characteristic of or appropriate for children or young people; "juvenile diabetes"; "juvenile fashions"
- a young person, not fully developed (同)juvenile person
PrepTutorEJDIC
- 少年少女向きの / 少年の,少女の,若い / 子供じみた,未熟な / 少年,少女 / 子役の俳優
Wikipedia preview
出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/10/28 06:28:23」(JST)
[Wiki en表示]
Juvenile nephronophthisis is the juvenile form of nephronophthisis that causes end stage renal disease around the age of 13; infantile nephronophthisis and adolescent nephronophthisis cause ESRD around the ages of 1 and 19, respectively.
Contents
- 1 Signs and symptoms
- 2 Pathophysiology
- 3 Diagnosis
- 4 Treatment
- 5 Epidemiology
- 6 References
Signs and symptoms
Typically, the signs and symptoms of juvenile nephronophthisis are limited to the kidneys. They include polyuria, polydipsia, weakness, and fatigue.[1]
When other organ systems are affected, symptoms can include situs inversus, heart abnormalities, and liver fibrosis. Juvenile nephronophthisis can also be associated with other rare disorders, including Senior–Løken syndrome and Joubert syndrome.[1]
Pathophysiology
Juvenile nephronophthisis causes fibrosis and scarring of the kidneys, which accounts for the symptoms observed. The kidneys also often have corticomedullary cysts.[1]
Diagnosis
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Treatment
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Epidemiology
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References
- ^ a b c "Nephronophthisis". Genetics Home Reference. Retrieved 2015-07-25.
UpToDate Contents
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English Journal
- Congenital ocular motor apraxia, the NPHP1 gene, and surveillance for nephronophthisis.
- Deacon BS, Lowery RS, Phillips PH, Schaefer GB.Author information Department of Ophthalmology, University of Arkansas for Medical Sciences, Arkansas Children's Hospital, Little Rock, Arkansas 72202, USA.AbstractWe present an 11-month-old girl with congenital ocular motor apraxia (COMA) and Joubert syndrome found to have a compound heterozygous mutation in the NPHP1 gene that is responsible for juvenile nephronophthisis type 1. The association of congenital ocular motor apraxia and juvenile nephronophthisis is reviewed. The patient does not currently manifest signs of renal failure, although her mutation indicates that she is at risk for the development of juvenile nephronophthisis type 1.
- Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus / American Association for Pediatric Ophthalmology and Strabismus.J AAPOS.2013 Jun;17(3):332-3. doi: 10.1016/j.jaapos.2013.02.003. Epub 2013 May 16.
- We present an 11-month-old girl with congenital ocular motor apraxia (COMA) and Joubert syndrome found to have a compound heterozygous mutation in the NPHP1 gene that is responsible for juvenile nephronophthisis type 1. The association of congenital ocular motor apraxia and juvenile nephronophthisis
- PMID 23683649
- Current insights into renal ciliopathies: what can genetics teach us?
- Arts HH, Knoers NV.Author information Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, and Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, 6525 GA, Nijmegen, The Netherlands. h.arts@gen.umcn.nlAbstractCiliopathies are a group of clinically and genetically overlapping disorders whose etiologies lie in defective cilia. These are antenna-like organelles on the apical surface of numerous cell types in a variety of tissues and organs, the kidney included. Cilia play essential roles during development and tissue homeostasis, and their dysfunction in the kidney has been associated with renal cyst formation and renal failure. Recently, the term "renal ciliopathies" was coined for those human genetic disorders that are characterized by nephronophthisis, cystic kidneys or renal cystic dysplasia. This review focuses on renal ciliopathies from a human genetics perspective. We survey the newest insights with respect to gene identification and genotype-phenotype correlations, and we reflect on candidate ciliopathies. The opportunities and challenges of next-generation sequencing (NGS) for genetic renal research and clinical DNA diagnostics are also reviewed, and we discuss the contribution of NGS to the development of personalized therapy for patients with renal ciliopathies.
- Pediatric nephrology (Berlin, Germany).Pediatr Nephrol.2013 Jun;28(6):863-74. doi: 10.1007/s00467-012-2259-9. Epub 2012 Jul 25.
- Ciliopathies are a group of clinically and genetically overlapping disorders whose etiologies lie in defective cilia. These are antenna-like organelles on the apical surface of numerous cell types in a variety of tissues and organs, the kidney included. Cilia play essential roles during development
- PMID 22829176
- Working out nephronophthisis genetics one family at a time.
- Caliskan Y, Gharavi AG.
- Journal of the American Society of Nephrology : JASN.J Am Soc Nephrol.2013 May;24(6):865-8. doi: 10.1681/ASN.2013040427. Epub 2013 May 16.
- PMID 23687355
Japanese Journal
- Juvenile Nephropathy in a Boxer Dog Resembling the Human Nephronophthisis-Medullary Cystic Kidney Disease Complex
- BASILE Angelo,ONETTI-MUDA Andrea,GIANNAKAKIS Konstantinos,FARAGGIANA Tullio,ARESU Luca
- Journal of Veterinary Medical Science advpub(0), 1108030593, 2011
- … A juvenile nephropathy in a 4-year-old male Boxer dog, closely resembling the Nephronophthisis (NPHP)-Medullary Cystic Kidney Disease Complex (MCKD) in humans is described. …
- NAID 130001032789
- 花田 卓也,林 篤,河場 康郎,岡田 晋一,齊藤 源顕,神崎 晋
- 日本小児腎臓病学会雑誌 = Japanese journal of pediatric nephrology 21(2), 167-171, 2008-11-15
- 症例は7歳の男児。学校検尿で尿蛋白を指摘され，精査目的で当院を受診した。高血圧，貧血，および腎機能障害があり，血尿なく蛋白尿は軽微であったが，低張尿であった。超音波検査では両腎のsizeは正常範囲だったが腎実質の輝度は上昇し，皮髄境界に数個の嚢胞が確認された。腎生検所見では大部分の糸球体が硬化し，尿細管の嚢胞状拡張など尿細管間質障害も広範囲であった。ネフロン癆による慢性腎不全と診断し，現在は腹膜 …
- NAID 10025170472
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- 同
- juvenile nephronophthisis
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- 関
- juvenilis、young