- 同
- MCKD
WordNet
- an impairment of health or a condition of abnormal functioning
- of or relating to the medulla of any body part
- containing or consisting of or resembling bone marrow
- of or relating to the medulla oblongata
- either of two bean-shaped excretory organs that filter wastes (especially urea) from the blood and excrete them and water in urine; "urine passes out of the kidney through ureters to the bladder"
- caused by or altered by or manifesting disease or pathology; "diseased tonsils"; "a morbid growth"; "pathologic tissue"; "pathological bodily processes" (同)morbid, pathologic, pathological
- of or relating to or resembling a cyst
- of or relating to a normal cyst (as the gallbladder or urinary bladder)
PrepTutorEJDIC
- (体の)『病気』,疾患 / (精神・道徳などの)病気,病弊
- 女性の話術芸人 =diseur
- 腎臓;(食品としての)羊(豚など)の腎臓 / 《文》気質,性質,たち(nature)
- 病気にかかった / 病的な,不健全な(morbid)
- 胞嚢(ほうのう)性の
Wikipedia preview
出典(authority):フリー百科事典『ウィキペディア(Wikipedia)』「2014/04/16 19:04:23」(JST)
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Medullary cystic kidney disease |
Classification and external resources |
ICD-10 |
Q61.5 |
ICD-9 |
753.16 |
OMIM |
174000 603860 |
DiseasesDB |
29224 |
MedlinePlus |
000465 |
eMedicine |
ped/1393 |
Medullary cystic kidney disease is an autosomal dominant kidney disorder characterized by cysts in both kidneys and tubulointerstitial sclerosis leading to end-stage renal disease. The kidney disease nephronophthisis is in the classification of this disorder.
Medullary cystic kidney disease has an autosomal dominant pattern of inheritance.
- MCKD1 has been associated with chromosome 1, but not a specific gene yet.[1] Research by Kirby A et al. suggest that mutations in the VNTR of the human mucin MUC1 are associated with MCKD1 [2]
- MCKD2 has been associated with UMOD on chromosome 16.[3]
See also
Nephronophthisis
External links
- GeneReviews/NCBI/NIH/UW entry on UMOD-Related Kidney Disease Includes: Familial Juvenile Hyperuricemic Nephropathy, Medullary Cystic Kidney Disease 2
- OMIM entries on UMOD-Related Kidney Disease Includes: Familial Juvenile Hyperuricemic Nephropathy, Medullary Cystic Kidney Disease 2
References
- ^ Scolari F, Viola BF, Ghiggeri GM, et al. (2003). "Towards the identification of (a) gene(s) for autosomal dominant medullary cystic kidney disease". J. Nephrol. 16 (3): 321–8. PMID 12832729.
- ^ Kirby A, Gnirke A, Jaffe DB, et al. (2013). "Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing". Nat Genet 45 (3): 299–303. PMID 23396133.
- ^ Hart TC, Gorry MC, Hart PS, et al. (December 2002). "Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy". J. Med. Genet. 39 (12): 882–92. doi:10.1136/jmg.39.12.882. PMC 1757206. PMID 12471200.
Health science - Medicine - Cystic diseases
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Respiratory system |
- Langerhans cell histiocytosis
- Lymphangiomyomatosis
- Cystic bronchiectasis
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Skin |
- stratified squamous: follicular infundibulum
- Epidermoid cyst/Proliferating epidermoid cyst
- Milia
- Eruptive vellus hair cyst
- outer root sheath
- Trichilemmal cyst/Pilar cyst/Proliferating trichilemmal cyst/Malignant trichilemmal cyst
- sebaceous duct
- Steatocystoma multiplex/Steatocystoma simplex
- Keratocyst
- nonstratified squamous: Cutaneous ciliated cyst
- Hidrocystoma
- no epithelium: Pseudocyst of the auricle
- Mucocele
- other/ungrouped: Cutaneous columnar cyst
- Keratin implantation cyst
- Verrucous cyst
- Adenoid cystic carcinoma
- Breast cyst
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Musculoskeletal system |
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Digestive system |
- oral cavity: Cysts of the jaws
- Odontogenic cyst
- Radicular cyst
- Dentigerous cyst
- Odontogenic keratocyst
- Nasopalatine duct cyst
- liver: Polycystic liver disease
- Congenital hepatic fibrosis
- Peliosis hepatis
- bile duct: Biliary hamartomas
- Caroli disease
- Choledochal cysts
- Bile duct hamartoma
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Nervous system |
- Cystic leukoencephalopathy
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Genitourinary system |
- Polycystic kidney disease
- Autosomal dominant polycystic kidney
- Autosomal recessive polycystic kidney
- Medullary cystic kidney disease
- Congenital cystic dysplasia
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Other conditions |
- Hydatid cyst
- Von Hippel-Lindau syndrome
- Tuberous sclerosis
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Female congenital anomalies of the genitalia, including Intersex and DSD: (Q50–Q52; 752.0–752.4)
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Internal |
Uterine malformation |
- Müllerian agenesis
- Unicornuate uterus
- Uterus didelphys
- Bicornuate uterus
- Uterine septum
- Arcuate uterus
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Vagina |
- Vaginal septum
- Vaginal atresia
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External |
- Clitoromegaly
- Progestin-induced virilisation
- Pseudohermaphroditism
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noco/cong/npls, sysi/epon
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proc/asst, drug (G1/G2B/G3CD)
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UpToDate Contents
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English Journal
- Tubular obstruction leads to progressive proximal tubular injury and atubular glomeruli in polycystic kidney disease.
- Galarreta CI1, Grantham JJ2, Forbes MS1, Maser RL2, Wallace DP2, Chevalier RL3.
- The American journal of pathology.Am J Pathol.2014 Jul;184(7):1957-66. doi: 10.1016/j.ajpath.2014.03.007. Epub 2014 May 9.
- In polycystic kidney disease (PKD), renal parenchyma is destroyed by cysts, hypothesized to obstruct nephrons. A signature of unilateral ureteral obstruction, proximal tubular atrophy leads to formation of atubular glomeruli. To determine whether this process occurs in PKD, kidneys from pcy mice (mo
- PMID 24815352
- Renal medullary carcinoma: a case report and brief review of the literature.
- Shetty A1, Matrana MR2.
- The Ochsner journal.Ochsner J.2014 Summer;14(2):270-5.
- BACKGROUND: Renal medullary carcinoma (RMC) is an aggressive form of non-clear cell kidney cancer that typically affects young adults and is almost exclusively associated with sickle cell trait. Typical RMC patients tend to be young black males (2:1 male to female predominance) with sickle cell trai
- PMID 24940141
- Uromodulin: old friend with new roles in health and disease.
- Iorember FM1, Vehaskari VM.
- Pediatric nephrology (Berlin, Germany).Pediatr Nephrol.2014 Jul;29(7):1151-8. doi: 10.1007/s00467-013-2563-z. Epub 2013 Jul 24.
- The most abundant urinary protein, Tamm-Horsfall protein, later renamed uromodulin, is expressed exclusively by the thick ascending limb cells of the kidney and released into urine from the apical cell membrane. Uromodulin is believed to protect against urinary tract infections and stones, but its o
- PMID 23880785
Japanese Journal
- A Novel UMOD Gene Mutation Associated with Uromodulin-associated Kidney Disease in a Young Woman with Moderate Kidney Dysfunction
- , , , , , , , , , , ,
- Internal Medicine 54(6), 631-635, 2015
- … Uromodulin-associated kidney disease (UAKD) is an autosomal dominant disease caused by a mutation in the uromodulin (UMOD) gene, leading to end-stage renal disease. … This case underscores the importance of performing genetic testing in young patients even in cases involving only moderate abnormalities in the kidney function. …
- NAID 130004903078
- THP測定法の開発と臨床的応用 (特集 尿蛋白・アルブミンの解析とその進歩)
- 下村 弘治,西牧 淳一,芝 紀代子
- 生物試料分析 = Journal of analytical bio-science 34(2), 126-134, 2011
- NAID 40019884011
- Juvenile Nephropathy in a Boxer Dog Resembling the Human Nephronophthisis-Medullary Cystic Kidney Disease Complex
- , , [他], ,
- Journal of Veterinary Medical Science 73(12), 1669-1675, 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. … Having excluded all other known cystic diseases of the kidney, and based on the lectin histochemistry results, the macroscopic and histological findings of our case are highly compatible with a diagnosis of the NPHP-MCKD complex. …
- NAID 130001032789
Related Links
- To use the sharing features on this page, please enable JavaScript. Medullary cystic kidney disease (MCKD) is an inherited condition in which cysts in the center of each kidney cause the kidneys to gradually lose their ability to work.
Related Pictures
★リンクテーブル★
[★]
- 同
- medullary cystic kidney disease
[★]
- 疾患:illnessより厳密な概念。「ある臓器に明確な障害が確認され、それによって症状が出ているとはっきり説明できる場合」 (PSY.9)
- 特定の原因、病態生理、症状、経過、予後、病理組織所見が全てそろった場合 (PSY.9)
- something that is very wrong with people's attitudes, way of life or with society.
- 関
- ail、ailment、disease entity、disorder、ill、illness、malady、sick、sickness
- disease ≠ illness ≠ disorder
[★]
- 関
- bulbar、medulla、medulla oblongata
[★]
- 関
- renal disease
- 関
- renal disease
- 関
- renal disease
- 関
- renal disease
- 関
- renal disease
[★]
嚢胞腎
- 関
- cystic kidney disease、cystic renal disease、polycystic kidney
[★]
毛
副腎
脳神経