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DENT DISEASE
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DeCS
Descriptor
Inglés
:
Dent Disease
Descriptor
Español
:
Enfermedad de Dent
Descriptor
Portugués
:
Doença de Dent
Sinónimos
Inglés
:
Dent's Disease
Dents Disease
Disease, Dent
Disease, Dent's
Disease, Dents
Categoría:
C12.777.419.815.364
C13.351.968.419.815.364
C16.320.322.100
C16.320.565.861.271
C18.452.648.861.271
Definición
Inglés
:
X-linked recessive
NEPHROLITHIASIS
characterized by
HYPERCALCIURIA
;
HYPOPHOSPHATEMIA
;
NEPHROCALCINOSIS
; and
PROTEINURIA
. It is associated with
mutations
in the voltage-gated chloride channel, CLC-5 (
Dent Disease
I). Another group of
mutations
associated with this
disease
is in phosphatidylinositol 4,5-bisphosphate-5-phosphatase gene.
Relacionados
Inglés
:
Bartter Syndrome
Fanconi Syndrome
Gitelman Syndrome
Oculocerebrorenal Syndrome
Nota Histórica
Inglés
:
2011
Calificadores Permitidos
Inglés
:
BL
blood
CF
cerebrospinal fluid
CI
chemically induced
CL
classification
CO
complications
DI
diagnosis
DG
diagnostic imaging
DH
diet therapy
DT
drug therapy
EC
economics
EM
embryology
EN
enzymology
EP
epidemiology
EH
ethnology
ET
etiology
GE
genetics
HI
history
IM
immunology
ME
metabolism
MI
microbiology
MO
mortality
NU
nursing
PS
parasitology
PA
pathology
PP
physiopathology
PC
prevention & control
PX
psychology
RT
radiotherapy
RH
rehabilitation
SU
surgery
TH
therapy
UR
urine
VE
veterinary
VI
virology
Número del Registro:
53983
Identificador Único:
D057973
Ocurrencia en la BVS
:
Similar:
DeCS