Nephrotic syndrome

Also known as: Nephrosis

Proteinuria over 3.5 g/day (or 40 mg/m2/h in children) with hypoalbuminemia, edema and hyperlipidemia.

Medical specialty: Nephrology
Subspecialty: Nephrology / Glomerular diseases
Sex & age distribution: Male: affected, more common in children; Female: affected, more common in adults with membranous or lupus forms; Children: yes, peak at 2–6 years
Gene(s) involved: ACTN4, ADCK4, APOL1, ARHGDIA, CD2AP, COQ2, COQ6, INF2, LAMB2, LMX1B, MYO1E, NPHS1, NPHS2, PLCE1, PTPRO, SMARCAL1, TRPC6, WT1

Etiology & mechanism

Podocyte injury or loss of glomerular filtration barrier from minimal change disease, FSGS, membranous nephropathy and others.

Gene(s) involved (18)

ACTN4ADCK4APOL1ARHGDIACD2APCOQ2COQ6INF2LAMB2LMX1BMYO1ENPHS1NPHS2PLCE1PTPROSMARCAL1TRPC6WT1

Symptoms & signs (10)

ascitesfatiguefoamy urinehyperlipidemiahypoalbuminemiainfectionsleg edemaperiorbital edemathromboembolismweight gain

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