特发性肾病综合征

Idiopathic nephrotic syndrome

ORPHA:357502疾病组

定义

本病是一种罕见的原发性肾小球疾病，其特征为水肿、大量或肾病范围的蛋白尿和低白蛋白血症的三联征，其原因不明。根据对治疗的反应，疾病可分为类固醇敏感性肾病综合征(SSNS)和类固醇抗性肾病综合征(SRNS)，后者根据发生情况可进一步分为家族性或散发性。

Orphanet 未在本条目上直接标注致病基因。下表由本组所属的下位疾病汇总而来，「来源条目」列给出基因实际标注在哪一个 ORPHA 条目上。

基因	名称	来源条目
ACTN4	actinin alpha 4	ORPHA:656
ANKFY1	ankyrin repeat and FYVE domain containing 1	ORPHA:656
ANLN	anillin, actin binding protein	ORPHA:656
ARHGAP24	Rho GTPase activating protein 24	ORPHA:656
ARHGDIA	Rho GDP dissociation inhibitor alpha	ORPHA:656
AVIL	advillin	ORPHA:656
CD2AP	CD2 associated protein	ORPHA:656
COQ6	coenzyme Q6, monooxygenase	ORPHA:280406
COQ8B	coenzyme Q8B	ORPHA:656
CRB2	crumbs cell polarity complex component 2	ORPHA:656
DAAM2	dishevelled associated activator of morphogenesis 2	ORPHA:656
EMP2	epithelial membrane protein 2	ORPHA:656
GAPVD1	GTPase activating protein and VPS9 domains 1	ORPHA:656
INF2	inverted formin, FH2 and WH2 domain containing	ORPHA:656
KANK2	KN motif and ankyrin repeat domains 2	ORPHA:656
LAMA5	laminin subunit alpha 5	ORPHA:656
MAGI2	membrane associated guanylate kinase, WW and PDZ domain containing 2	ORPHA:656
MYO1E	myosin IE	ORPHA:656
NPHS1	NPHS1 adhesion molecule, nephrin	ORPHA:656
NPHS2	NPHS2 stomatin family member, podocin	ORPHA:656
NUP107	nucleoporin 107	ORPHA:656
NUP133	nucleoporin 133	ORPHA:656
NUP160	nucleoporin 160	ORPHA:656
NUP205	nucleoporin 205	ORPHA:656
NUP37	nucleoporin 37	ORPHA:656
NUP85	nucleoporin 85	ORPHA:656
NUP93	nucleoporin 93	ORPHA:656
PAX2	paired box 2	ORPHA:656
PLCE1	phospholipase C epsilon 1	ORPHA:656
PTPRO	protein tyrosine phosphatase receptor type O	ORPHA:656
TBC1D8B	TBC1 domain family member 8B	ORPHA:656
TRPC6	transient receptor potential cation channel subfamily C member 6	ORPHA:656
WT1	WT1 transcription factor	ORPHA:656

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