El panel de precisión de colestasis intrahepática familiar progresivo Igenomix está indicado para aquellos pacientes con sospecha clínica o diagnóstico de hemocromatosis que presenten las siguientes manifestaciones:
La utilidad clínica de este panel es:
|
GENE |
OMIM DISEASES |
INHERITANCE* |
% GENE COVERAGE (20X) |
HGMD** |
|
ABCB11 |
Benign Recurrent Intrahepatic Cholestasis, Progressive Familial Intrahepatic Cholestasis |
AR |
99.92% |
333 of 334 |
|
ABCB4 |
Intrahepatic Cholestasis Of Pregnancy, Familial Intrahepatic Cholestasis, Gallbladder Disease |
AD,AR |
100% |
255 of 256 |
|
ATP8B1 |
Benign Recurrent Intrahepatic Cholestasis, Intrahepatic Cholestasis Of Pregnancy, Progressive Familial Intrahepatic Cholestasis |
AD,AR |
99.98% |
140 of 140 |
|
MYO5B |
Diarrhea With Microvillous Atrophy, Microvillus Inclusion Disease |
AR |
100% |
86 of 86 |
|
NR1H4 |
Progressive Familial Intrahepatic Cholestasis |
AR |
100% |
4 of 4 |
|
TJP2 |
Progressive Familial Intrahepatic Cholestasis, Familial Hypercholanemia |
AR |
99.85% |
43 of 43 |
* Herencia: AD: Autosómico Dominante; AR: autosómico recesivo; X: ligado a X; XLR: recesivo vinculado a X; Mi: mitocondrial; Mu: multifactorial; G: herencia gonosomal; D: herencia digénica
** HGMD: número de mutaciones clínicamente relevantes según HGMD
Bull, L. N., & Thompson, R. J. (2018). Progressive Familial Intrahepatic Cholestasis. Clinics in liver disease, 22(4), 657–669. https://doi.org/10.1016/j.cld.2018.06.003
Baker, A., Kerkar, N., Todorova, L., Kamath, B. M., & Houwen, R. (2019). Systematic review of progressive familial intrahepatic cholestasis. Clinics and research in hepatology and gastroenterology, 43(1), 20–36. https://doi.org/10.1016/j.clinre.2018.07.010
Srivastava A. (2014). Progressive familial intrahepatic cholestasis. Journal of clinical and experimental hepatology, 4(1), 25–36. https://doi.org/10.1016/j.jceh.2013.10.005
Siddiqi, I., & Tadi, P. (2020). Progressive Familial Intrahepatic Cholestasis. In StatPearls. StatPearls Publishing.
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