A case report: Familial glucocorticoid deficiency associated with familial focal segmental glomerulosclerosis.
A case report: Familial glucocorticoid deficiency associated with familial focal segmental glomerulosclerosis.
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DOI：
10.1186/1472-6823-12-32
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发表时间：
2012-12-11
影响因子：
2.7
通讯作者：
Islam N
中科院分区：
文献类型：
--
作者：
Ram N;Asghar A;Islam N
家族性糖皮质激素缺乏症(FGD)是一种罕见的常染色体隐性遗传病，以血浆肾素和醛固酮水平正常的孤立性糖皮质激素缺乏症为特征。局灶节段性肾小球硬化(FSGS)是一种与蛋白尿和肾病综合征相关的肾小球疾病。这是第一例与家族性局灶节段性肾小球硬化相关的家族性糖皮质激素缺乏。一名八个月大的男婴表现为生殖器色素沉着增加。初步调查显示，他是糖皮质激素缺乏，开始使用氢化可的松和氟可的松，诊断为原发性肾上腺功能不全。后来，他停用了氟可的松，被诊断为孤立性糖皮质激素缺乏症。他后来发展为局灶性节段性肾小球硬化，并在5岁时接受了肾移植。现在，这个12岁的男孩在氢化可的松治疗方面做得很好。他的两个兄弟姐妹和一个一级表亲也患有孤立性糖皮质激素缺乏症。以上两个兄弟姐妹中的一个死于局灶性节段性肾小球硬化继发的肾功能衰竭。家族性糖皮质激素缺乏的患者应密切关注肾病综合征的发病特点。
Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disorder characterized by isolated glucocorticoid deficiency in the presence of normal plasma renin and aldosterone level. Focal segmental glomerulosclerosis (FSGS) is a form of glomerular disease associated with proteinuria and nephritic syndrome. This is the first case of familial glucocorticoid deficiency associated with familial focal segmental glomerulosclerosis. An eight month old boy presented with increased genital pigmentation. Initial investigation revealed that he was glucocorticoid deficient and was started on hydrocortisone and fludrocortisone with a diagnosis of primary adrenal insufficiency. Later fludrocortisone was withdrawn and he was diagnosed to have isolated glucocorticoid deficiency. He later developed focal segmental glomerulosclerosis for which he underwent renal transplantation at the age of five years. Now at the age of twelve years, this boy is doing well on hydrocortisone treatment. His two siblings and a first degree cousin also had isolated glucocorticoid deficiency. One of the above two siblings died due to renal failure secondary to focal segmental glomerulosclerosis. Patients with familial glucocorticoid deficiency should be carefully followed for development of features of nephrotic syndrome.
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影响因子：
3.2
作者：
Chung TT;Chan LF;Metherell LA;Clark AJ
通讯作者：
Clark AJ
DOI：
10.1001/archpedi.1959.02070010156002
发表时间：
1959-01-01
期刊：
AMA JOURNAL OF DISEASES OF CHILDREN
影响因子：
--
作者：
SHEPARD, TH;LANDING, BH;MASON, DG
通讯作者：
MASON, DG
影响因子：
2.5
作者：
GHERARDI, R;BELGHITIDEPREZ, D;LAGRUE, G
通讯作者：
LAGRUE, G
影响因子：
2.3
作者：
Yamada, Shunsuke;Bandai, Sachiko;Iida, Mitsuo
通讯作者：
Iida, Mitsuo
影响因子：
30.8
作者：
Meimaridou, Eirini;Kowalczyk, Julia;Guasti, Leonardo;Hughes, Claire R.;Wagner, Florian;Frommolt, Peter;Nuernberg, Peter;Mann, Nicholas P.;Banerjee, Ritwik;Saka, H. Nurcin;Chapple, J. Paul;King, Peter J.;Clark, Adrian J. L.;Metherell, Louise A.
通讯作者：
Metherell, Louise A.