Deprecated: Implicit conversion from float 217.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534
Deprecated: Implicit conversion from float 217.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534
Warning: imagejpeg(C:\Inetpub\vhosts\kidney.de\httpdocs\phplern\26148701
.jpg): Failed to open stream: No such file or directory in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 117 Endocrine
2015 ; 50
(3
): 575-9
Nephropedia Template TP
gab.com Text
Twit Text FOAVip
Twit Text #
English Wikipedia
The molecular classification of hereditary endocrine diseases
#MMPMID26148701
Ye L
; Ning G
Endocrine
2015[Dec]; 50
(3
): 575-9
PMID26148701
show ga
Hereditary endocrine diseases are an important group of diseases with great
heterogeneity. The current classification for hereditary endocrine disease is
mostly based upon anatomy, which is helpful for pathophysiological
interpretation, but does not address the pathogenic variability associated with
different underlying genetic causes. Identification of an
endocrinopathy-associated genetic alteration provides evidence for differential
diagnosis, discovery of non-classical disease, and the potential for earlier
diagnosis and targeted therapy. Molecular diagnosis should be routinely applied
when managing patients with suspicion of hereditary disease. To enhance the
accurate diagnosis and treatment of patients with hereditary endocrine diseases,
we propose categorization of endocrine diseases into three groups based upon the
function of the mutant gene: cell differentiation, hormone synthesis and action,
and tumorigenesis. Each category was further grouped according to the specific
gene function. We believe that this format would facilitate practice of precision
medicine in the field of hereditary endocrine diseases.
|Carcinogenesis/genetics
[MESH]
|Cell Differentiation/genetics
[MESH]
|Endocrine System Diseases/*classification/*genetics
[MESH]