Medullary cystic kidney disease

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. Importantly, cysts are found in the medullary collecting ducts, which results in a shrunken kidney, unlike that of polycystic kidney disease.

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]

External links

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. doi:10.1038/ng.2543. 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.

Cystic diseases

Respiratory system	Langerhans cell histiocytosis Lymphangiomyomatosis Cystic bronchiectasis

Skin	stratified squamous: follicular infundibulum Epidermoid cyst and Proliferating epidermoid cyst Milia Eruptive vellus hair cyst outer root sheath Trichilemmal cyst and Pilar cyst and Proliferating trichilemmal cyst and Malignant trichilemmal cyst sebaceous duct Steatocystoma multiplex and Steatocystoma simplex Keratocyst nonstratified squamous: Cutaneous ciliated cyst Hidrocystoma no epithelium: Pseudocyst of the auricle Mucocele other and ungrouped: Cutaneous columnar cyst Keratin implantation cyst Verrucous cyst Adenoid cystic carcinoma Breast cyst

Musculoskeletal system	Cystic hygroma

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

Nervous system	Cystic leukoencephalopathy

Genitourinary system	Polycystic kidney disease Autosomal dominant polycystic kidney Autosomal recessive polycystic kidney Medullary cystic kidney disease Nephronophthisis Congenital cystic dysplasia

Other conditions	Hydatid cyst Von Hippel-Lindau syndrome Tuberous sclerosis

Female congenital anomalies of the genitalia, including Intersex and DSD: (Q50–Q52; 752.0–752.4)

Internal

Uterine malformation	Müllerian agenesis Cervical agenesis Unicornuate uterus Uterus didelphys Bicornuate uterus Uterine septum Arcuate uterus

Vagina	Vaginal septum Vaginal hypoplasia

External

Index of reproductive medicine

Description	Anatomy male female Physiology menstrual cycle Development sex determination and differentiation

Disease	Infections STD and STI Congenital male female Neoplasms and cancer male female gonadal germ cell Other male female Symptoms and signs eponymous

Treatment	Procedures male female Drugs benign prostatic hypertrophy erectile dysfunction and premature ejaculation sexual dysfunction infection STDs hormones androgens estrogens progestogens GnRH prolactin Assisted reproduction Birth control hormonal

Medullary cystic kidney disease

See also

External links

References