参考文献/References:
[1] Anderson KE.Acute hepatic porphyrias:current diagnosis & management[J].Mol Genet Metab,2019,128(3):219-227.DOI:10.1016/j.ymgme.2019.07.002.
[2] Puy H,Gouya L,Deybach JC.Porphyrias[J].Lancet,2010,375(9718):924-937.DOI:10.1016/S0140-6736(09)61925-5.
[3] Elder G,Harper P,Badminton M,et al.The incidence of inherited porphyrias in Europe[J].J Inherit Metab Dis,2013,36(5):849-857.DOI:10.1007/s10545-012-9544-4.
[4] American Diabetes Association.Diagnosis and classification of diabetes mellitus[J].Diabetes Care,2014,37(Suppl 1):S81-90.DOI:10.2337/dc14-S081.
[5] Oliveri LM,Davio C,Batlle AM,et al.ALAS1 gene expression is down-regulated by Akt-mediated phosphorylation and nuclear exclusion of FOXO1 by vanadate in diabetic mice[J].Biochem J,2012,442(2):303-310.DOI:10.1042/BJ20111005.
[6] Kothadia JP,LaFreniere K,Shah JM.Acute Hepatic Porphyria//StatPearls[M].Treasure Island(FL):StatPearls Publishing,2020.
[7] Baumann K,Kauppinen R.Penetrance and predictive value of genetic screening in acute porphyria[J].Mol Genet Metab,2020,130(1):87-99.DOI:10.1016/j.ymgme.2020.02.003.
[8] Gouya L,Ventura P,Balwani M,et al.EXPLORE:a prospective,multinational,natural history study of patients with acute hepatic porphyria with recurrent attacks.[J].Hepatology,2020,71(5):1546-1558.DOI:10.1002/hep.30936.
[9] Stein JA,Tschudy DP.Acute intermittent porphyria.a clinical and biochemical study of 46 patients[J].Medicine(Baltimore),1970,49(1):1-16.
[10] Herrick AL,Fisher BM,Moore MR,et al.Elevation of blood lactate and pyruvate levels in acute intermittent porphyria--a reflection of haem deficiency?[J].Clin Chim Acta,1990,190(3):157-162.DOI:10.1016/0009-8981(90)90169-s.
[11] Collantes M,Serrano-Mendioroz I,Benito M,et al.Glucose metabolism during fasting is altered in experimental porphobilinogen deaminase deficiency[J].Hum Mol Genet,2016,25(7):1318-1327.DOI:10.1093/hmg/ddw013.
[12] Matkovic LB,D'Andrea F,Fornes D,et al.How porphyrinogenic drugs modeling acute porphyria impair the hormonal status that regulates glucose metabolism.Their relevance in the onset of this disease[J].Toxicology,2011,290(1):22-30.DOI:10.1016/j.tox.2011.08.014.
[13] Saitoh S,Okano S,Nohara H,et al.5-aminolevulinic acid(ALA)deficiency causes impaired glucose tolerance and insulin resistance coincident with an attenuation of mitochondrial function in aged mice[J].PLoS One,2018,13(1):e0189593.DOI:10.1371/journal.pone.0189593.
[14] van Wijk K,Akabane T,Kimura T,et al.Heterozygous disruption of ALAS1 in mice causes an accelerated age-dependent reduction in free heme,but not total heme,in skeletal muscle and liver[J].Arch Biochem Biophys,2021,697:108721.DOI:10.1016/j.abb.2020.108721.
[15] Ndisang JF,Lane N,Syed N,et al.Up-regulating the heme oxygenase system with hemin improves insulin sensitivity and glucose metabolism in adult spontaneously hypertensive rats[J].Endocrinology,2010,151(2):549-560.DOI:10.1210/en.2009-0471.
[16] Li M,Kim DH,Tsenovoy PL,et al.Treatment of obese diabetic mice with a heme oxygenase inducer reduces visceral and subcutaneous adiposity,increases adiponectin levels,and improves insulin sensitivity and glucose tolerance[J].Diabetes,2008,57(6):1526-1535.DOI:10.2337/db07-1764.
[17] Handschin C,Lin J,Rhee J,et al.Nutritional regulation of hepatic heme biosynthesis and porphyria through PGC-1alpha[J].Cell,2005,122(4):505-515.DOI:10.1016/j.cell.2005.06.040.
[18] Besseiche A,Riveline JP,Delavallée L,et al.Oxidative and energetic stresses mediate beta-cell dysfunction induced by PGC-1α[J].Diabetes Metab,2018,44(1):45-54.DOI:10.1016/j.diabet.2017.01.007.
[19] Valtat B,Riveline JP,Zhang P,et al.Fetal PGC-1α overexpression programs adult pancreatic β-cell dysfunction[J].Diabetes,2013,62(4):1206-1216.DOI:10.2337/db12-0314.
[20] Wada J,Makino H.Innate immunity in diabetes and diabetic nephropathy[J].Nat Rev Nephrol,2016,12(1):13-26.DOI:10.1038/nrneph.2015.175.
[21] Storjord E,Dahl JA,Landsem A,et al.Systemic inflammation in acute intermittent porphyria:a case-control study[J].Clin Exp Immunol,2017,187(3):466-479.DOI:10.1111/cei.12899.
[22] 任毅,左之才,万涛梅.抵抗素在胰岛素抵抗中的作用机制及其受体信号通路研究进展.生理学报,2016,68(1):65-74.DOI:10.13294/j.aps.2016.0011.
[23] Storjord E,Dahl JA,Landsem A,et al.Lifestyle factors including diet and biochemical biomarkers in acute intermittent porphyria:Results from a case-control study in northern Norway[J].Mol Genet Metab,2019,128(3):254-270.DOI:10.1016/j.ymgme.2018.12.006.
[24] Saeedi Borujeni MJ,Esfandiary E,Taheripak G,et al.Molecular aspects of diabetes mellitus:Resistin,microRNA,and exosome[J].J Cell Biochem,2018,119(2):1257-1272.DOI:10.1002/jcb.26271.
[25] Sivitz WI,Yorek MA.Mitochondrial dysfunction in diabetes:from molecular mechanisms to functional significance and therapeutic opportunities[J].Antioxid Redox Signal,2010,12(4):537-577.DOI:10.1089/ars.2009.2531.
[26] Laafi J,Homedan C,Jacques C,et al.Pro-oxidant effect of ALA is implicated in mitochondrial dysfunction of HepG2 cells[J].Biochimie,2014,106:157-166.DOI:10.1016/j.biochi.2014.08.014.
[27] Doss M,Verspohl F.The "glucose effect" in acute hepatic porphyrias and in experimental porphyria[J].Klin Wochenschr,1981,59(13):727-735.DOI:10.1007/BF01721260.
[28] Lithner F.Beneficial effect of diabetes on acute intermittent porphyria[J].Diabetes Care,2002,25(4):797-798.DOI:10.2337/diacare.25.4.797.