Nephrotic syndrome and adrenal insufficiency caused by a variant in SGPL1.
Nephrotic syndrome and adrenal insufficiency caused by a variant in SGPL1.
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SGPL1中的变体引起的肾病综合征和肾上腺功能不全。
DOI：
10.1093/ckj/sfx130
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发表时间：
2018-08
影响因子：
4.6
通讯作者：
Pena SDJ
中科院分区：
文献类型：
--
作者：
Linhares ND;Arantes RR;Araujo SA;Pena SDJ
先天性肾病综合征合并原发性肾上腺皮质功能不全的分子发病机制知之甚少。最近，三个研究小组同时发现了鞘氨醇-1-磷酸裂解酶1（SGPL 1）基因的潜在遗传缺陷，并将其称为肾病综合征14型（NPHS 14）。在这份报告中，我们进行了全外显子组测序，并确定了一个新的纯合子变异SGPL 1，p.Arg340Trp，在一个女孩与肾病综合征和阿狄森氏病。她的兄弟以前死于相同的表型和皮肤色素沉着过度。我们回顾了报告的病例，并得出结论，NPHS 14是一种临床可识别的综合征。这种综合征的发现可能有助于诊断和描述更多的患者，这些患者可以从治疗、遗传咨询和相关合并症筛查中获益。到目前为止，患有先天性肾病综合征伴原发性肾上腺功能不全的患者已被视为患有两种不同的疾病;然而，NPHS 14患者的治疗应该是独特的，可能靶向鞘脂代谢。
Little is known about the molecular pathogenesis of congenital nephrotic syndrome in association with primary adrenal insufficiency. Most recently, three groups found concurrently the underlying genetic defect in the gene sphingosine-1-phosphate lyase 1 (SGPL1) and called the disease nephrotic syndrome type 14 (NPHS14). In this report we have performed whole-exome sequencing and identified a new homozygous variant in SGPL1, p.Arg340Trp, in a girl with nephrotic syndrome and Addison's disease. Her brother died previously with the same phenotype and hyperpigmentation of the skin. We reviewed the reported cases and concluded that NPHS14 is a clinically recognizable syndrome. The discovery of this syndrome may contribute to the diagnosis and description of additional patients who could benefit from treatment, genetic counseling and screening for related comorbidities. Until now, patients with congenital nephrotic syndrome associated with primary adrenal insufficiency have been treated as having two different diseases; however, the treatment for patients with NPHS14 should be unique, possibly targeting the sphingolipid metabolism.
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DOI：
10.1172/jci90171
发表时间：
2017-03-01
期刊：
The Journal of clinical investigation
影响因子：
--
作者：
Prasad R;Hadjidemetriou I;Maharaj A;Meimaridou E;Buonocore F;Saleem M;Hurcombe J;Bierzynska A;Barbagelata E;Bergadá I;Cassinelli H;Das U;Krone R;Hacihamdioglu B;Sari E;Yesilkaya E;Storr HL;Clemente M;Fernandez-Cancio M;Camats N;Ram N;Achermann JC;Van Veldhoven PP;Guasti L;Braslavsky D;Guran T;Metherell LA
通讯作者：
Metherell LA
影响因子：
4.3
作者：
G C C L Cardenas R;D Linhares N;L Ferreira R;Pena SDJ
通讯作者：
Pena SDJ
影响因子：
5.8
作者：
Bornstein, Stefan R.;Allolio, Bruno;Torpy, David J.
通讯作者：
Torpy, David J.
影响因子：
1.9
作者：
Linhares, Natalia D.;Freire, Maira C. M.;Pena, Sergio D. J.
通讯作者：
Pena, Sergio D. J.
影响因子：
3.9
作者：
Janecke AR;Xu R;Steichen-Gersdorf E;Waldegger S;Entenmann A;Giner T;Krainer I;Huber LA;Hess MW;Frishberg Y;Barash H;Tzur S;Schreyer-Shafir N;Sukenik-Halevy R;Zehavi T;Raas-Rothschild A;Mao C;Müller T
通讯作者：
Müller T