Cystinosis [cystinóza]
- Terms
-
nefropatická cystinóza
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Cystine Diathesis
Cystine Disease
Cystine Storage Disease
Cystinoses
Cystinosin, Defect of
Cystinosis, Nephropathic
Lysosomal Cystine Transport Protein, Defect Of
Nephropathic Cystinosis
A metabolic disease characterized by the defective transport of CYSTINE across the lysosomal membrane due to mutation of a membrane protein cystinosin. This results in cystine accumulation and crystallization in the cells causing widespread tissue damage. In the KIDNEY, nephropathic cystinosis is a common cause of RENAL FANCONI SYNDROME.
- DUI
- D003554 MeSH Browser
- CUI
- M0005556
Allowable subheadings
- BL
- blood 1
- CF
- cerebrospinal fluid
- CI
- chemically induced
- CL
- classification
- CO
- complications 1
- DI
- diagnosis 3
- DG
- diagnostic imaging
- DH
- diet therapy 2
- DT
- drug therapy 2
- EC
- economics
- EM
- embryology
- EN
- enzymology
- EP
- epidemiology
- EH
- ethnology
- ET
- etiology 2
- GE
- genetics
- HI
- history
- IM
- immunology
- ME
- metabolism
- MI
- microbiology
- MO
- mortality
- NU
- nursing
- PS
- parasitology
- PA
- pathology 1
- PP
- physiopathology
- PC
- prevention & control
- PX
- psychology
- RT
- radiotherapy
- RH
- rehabilitation
- SU
- surgery
- TH
- therapy 1
- UR
- urine 1
- VE
- veterinary
- VI
- virology
Abderhalden-Kaufmann-Lignac syndrome Disease MeSH Browser
Cystinosis, Infantile Nephropathic Disease MeSH Browser
Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type Disease MeSH Browser
Cystinosis, ocular nonnephropathic Disease MeSH Browser