遗传性激素抵抗型肾病综合征

Hereditary steroid-resistant nephrotic syndrome

ORPHA:656疾病

定义英文原文（暂无中文）

A rare, hereditary nephrotic syndrome characterized by proteinuria, hypoalbuminemia, edema, and hyperlipidemia, with an absence of response to an initial trial of corticosteroids (i.e. steroid-resistant nephrotic syndrome; SRNS) and a generally complicated course.

别名

家族性特发性激素抵抗型肾病综合征

基本事实

遗传方式: 常染色体显性、常染色体隐性
发病年龄: 青少年期、成年期、产前、儿童期、婴儿期、新生儿期

相关基因 34

基因	名称	关联类型
ACTN4	actinin alpha 4	Disease-causing germline mutation(s) in
TRPC6	transient receptor potential cation channel subfamily C member 6	Disease-causing germline mutation(s) (gain of function) in
WT1	WT1 transcription factor	Disease-causing germline mutation(s) in
COL4A3	collagen type IV alpha 3 chain	Modifying germline mutation in
NPHS1	NPHS1 adhesion molecule, nephrin	Disease-causing germline mutation(s) in
NPHS2	NPHS2 stomatin family member, podocin	Disease-causing germline mutation(s) in
PAX2	paired box 2	Disease-causing germline mutation(s) (loss of function) in
PLCE1	phospholipase C epsilon 1	Disease-causing germline mutation(s) in
INF2	inverted formin, FH2 and WH2 domain containing	Disease-causing germline mutation(s) in
CD2AP	CD2 associated protein	Disease-causing germline mutation(s) in
APOL1	apolipoprotein L1	Major susceptibility factor in
MYO1E	myosin IE	Disease-causing germline mutation(s) in
PTPRO	protein tyrosine phosphatase receptor type O	Disease-causing germline mutation(s) in
ARHGAP24	Rho GTPase activating protein 24	Disease-causing germline mutation(s) (loss of function) in
ARHGDIA	Rho GDP dissociation inhibitor alpha	Disease-causing germline mutation(s) (loss of function) in
COQ8B	coenzyme Q8B	Disease-causing germline mutation(s) (loss of function) in
EMP2	epithelial membrane protein 2	Disease-causing germline mutation(s) (loss of function) in
ANLN	anillin, actin binding protein	Disease-causing germline mutation(s) in
CRB2	crumbs cell polarity complex component 2	Disease-causing germline mutation(s) (loss of function) in
KANK2	KN motif and ankyrin repeat domains 2	Disease-causing germline mutation(s) in
NUP107	nucleoporin 107	Disease-causing germline mutation(s) in
NUP93	nucleoporin 93	Disease-causing germline mutation(s) (loss of function) in
NUP205	nucleoporin 205	Disease-causing germline mutation(s) in
LAMA5	laminin subunit alpha 5	Disease-causing germline mutation(s) in
MAGI2	membrane associated guanylate kinase, WW and PDZ domain containing 2	Disease-causing germline mutation(s) in
GAPVD1	GTPase activating protein and VPS9 domains 1	Disease-causing germline mutation(s) in
ANKFY1	ankyrin repeat and FYVE domain containing 1	Disease-causing germline mutation(s) in
NUP85	nucleoporin 85	Disease-causing germline mutation(s) in
NUP37	nucleoporin 37	Disease-causing germline mutation(s) in
NUP160	nucleoporin 160	Disease-causing germline mutation(s) in
NUP133	nucleoporin 133	Disease-causing germline mutation(s) in
TBC1D8B	TBC1 domain family member 8B	Disease-causing germline mutation(s) (loss of function) in
DAAM2	dishevelled associated activator of morphogenesis 2	Disease-causing germline mutation(s) in
AVIL	advillin	Disease-causing germline mutation(s) in

临床表型 17

必现 100%1

蛋白尿 HP:0000093

极常见 99–80%1

水肿 HP:0000969

常见 79–30%4

慢性肾病 HP:0012622
局灶节段性肾小球硬化 HP:0000097
眶周水肿 HP:0100539
慢性肾病5期 HP:0003774

偶见 29–5%9

腹痛 HP:0002027
弥漫性肾小球系膜硬化 HP:0001967
发热 HP:0001945
泡沫尿 HP:0031504
头痛 HP:0002315
低蛋白血症 HP:0003073
易激惹 HP:0000737
微小病变性肾小球肾炎 HP:0012579
呼吸道感染 HP:0011947

罕见 <4–1%2

神经系统异常 HP:0000707
腹膜炎 HP:0002586

外部标识与链接

Orphanet OMIM:256370 OMIM:301028 OMIM:600995 MONDO:0019006 GARD:3946ICD-10 N04.1、N04.3、N04.8ICD-11 GB41ClinicalTrials.gov 检索

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本页数据来源

疾病定义、同义词、基因、表型、流行病学：Orphanet（CC BY 4.0）
中文病名：Orphanet 中文包，冻结于 2020-06-01
表型中文标签：HPO 简体中文翻译（CHPO 上游成果）