A rare case of hyporeninemic hypertension: Answers.
A rare case of hyporeninemic hypertension: Answers.
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一个罕见的低肾素性高血压病例：答案。
DOI：
10.1007/s00467-020-04667-4
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发表时间：
2021-03
期刊：
影响因子：
--
通讯作者：
Wolf MTF
中科院分区：
文献类型：
--
作者：
Mashmoushi A;Choudhary A;Thomas CP;Wolf MTF
I. Liddle综合征：常染色体显性遗传，SCNN 1B或SCNN 1G的功能获得性变体，分别编码上皮Na+通道ENaC的β和γ亚基。这导致较少的通道泛素化，连接小管和集合管中ENaC的较高细胞表面丰度，以及更多的Na+和水吸收[1，2]。二. Gordon综合征（假性醛固酮减少症2型）：常染色体显性遗传、WNK 1、WNK 4、CUL 1和KLHL 1（KLHL 1也以常染色体隐性方式遗传）。临床和实验室特征包括高钾血症、代谢性酸中毒和高钙尿症。WNK 1基因第一内含子内的大缺失导致WNK 1表达增加，从而刺激NCC。KLHL 3和CUL 3是降解WNK的泛素蛋白连接酶复合物的一部分。KLHL 3和CUL 3中的功能丧失变体导致刺激NCC的WNK 4丰度增加[3-5]。WNK 4中的功能获得性变体也增加NCC活性[5]。
I. Liddle’s syndrome: autosomal dominant inheritance, gain-of-function variants of SCNN1B or SCNN1G, encoding the beta and gamma subunits of the epithelial Na+ channel ENaC, respectively. This results in less channel ubiquitination, higher cell surface abundance of ENaC in the connecting tubule and collecting ducts, and more Na+ and water absorption [1, 2]. II. Gordon syndrome (pseudohypoaldosteronism type 2): autosomal dominant inheritance, WNK1, WNK4, CUL1, and KLHL1 (KLHL1 is also inherited in an autosomal recessive manner). Clinical and laboratory characteristics include hyperkalemia, metabolic acidosis, and hypercalciuria. Large deletions within the first intron of the WNK1 gene result in increased WNK1 expression which stimulates NCC. KLHL3 and CUL3 are part of an ubiquitinprotein ligase complex which degrades WNKs. Loss-offunction variants in KLHL3 and CUL3 cause an increased abundance of WNK4 which stimulates NCC [3–5]. Gainof-function variants in WNK4 also increase NCC activity [5].
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影响因子：
5.8
作者：
Charmandari, Evangelia;Sertedaki, Amalia;Chrousos, George P.
通讯作者：
Chrousos, George P.
影响因子：
64.5
作者：
SHIMKETS, RA;WARNOCK, DG;LIFTON, RP
通讯作者：
LIFTON, RP
影响因子：
64.8
作者：
Boyden, Lynn M.;Choi, Murim;Choate, Keith A.;Nelson-Williams, Carol J.;Farhi, Anita;Toka, Hakan R.;Tikhonova, Irina R.;Bjornson, Robert;Mane, Shrikant M.;Colussi, Giacomo;Lebel, Marcel;Gordon, Richard D.;Semmekrot, Ben A.;Poujol, Alain;Valimaki, Matti J.;De Ferrari, Maria E.;Sanjad, Sami A.;Gutkin, Michael;Karet, Fiona E.;Tucci, Joseph R.;Stockigt, Jim R.;Keppler-Noreuil, Kim M.;Porter, Craig C.;Anand, Sudhir K.;Whiteford, Margo L.;Davis, Ira D.;Dewar, Stephanie B.;Bettinelli, Alberto;Fadrowski, Jeffrey J.;Belsha, Craig W.;Hunley, Tracy E.;Nelson, Raoul D.;Trachtman, Howard;Cole, Trevor R. P.;Pinsk, Maury;Bockenhauer, Detlef;Shenoy, Mohan;Vaidyanathan, Priya;Foreman, John W.;Rasoulpour, Majid;Thameem, Farook;Al-Shahrouri, Hania Z.;Radhakrishnan, Jai;Gharavi, Ali G.;Goilav, Beatrice;Lifton, Richard P.
通讯作者：
Lifton, Richard P.
DOI：
10.1126/science.1198785
发表时间：
2011-02-11
期刊：
Science (New York, N.Y.)
影响因子：
--
作者：
Choi M;Scholl UI;Yue P;Björklund P;Zhao B;Nelson-Williams C;Ji W;Cho Y;Patel A;Men CJ;Lolis E;Wisgerhof MV;Geller DS;Mane S;Hellman P;Westin G;Åkerström G;Wang W;Carling T;Lifton RP
通讯作者：
Lifton RP
影响因子：
5.8
作者：
Geller, David S.;Zhang, Junhui;Lifton, Richard P.
通讯作者：
Lifton, Richard P.