Nephrotic syndrome, type 3(NPHS3)

MedGen UID:: 377831
•Concept ID:: C1853124
•: Disease or Syndrome

Synonyms:	NEPHROTIC SYNDROME, EARLY-ONSET, TYPE 3; NPHS3

Gene (location): Gene(s) directly associated with this condition or phenotype.	PLCE1 (10q23.33)

Monarch Initiative:	MONDO:0012546
OMIM®:	610725

Definition

Nephrotic syndrome, a malfunction of the glomerular filter, is characterized clinically by proteinuria, edema, and end-stage renal disease (ESRD). Renal histopathology may show diffuse mesangial sclerosis (DMS) or focal segmental glomerulosclerosis (FSGS) (Hinkes et al., 2006). Most patients with NPHS3 show diffuse mesangial sclerosis on renal biopsy, which is a pathologic entity characterized by mesangial matrix expansion with no mesangial hypercellularity, hypertrophy of the podocytes, vacuolized podocytes, thickened basement membranes, and diminished patency of the capillary lumen (Gbadegesin et al., 2008). For a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome and FSGS, see NPHS1 (256300). [from OMIM]

Clinical features

From HPO

Focal segmental glomerulosclerosis

MedGen UID:: 4904
•Concept ID:: C0017668
•: Disease or Syndrome

Segmental accumulation of scar tissue in individual (but not all) glomeruli.

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Nephrotic syndrome

MedGen UID:: 10308
•Concept ID:: C0027726
•: Disease or Syndrome

Nephrotic syndrome is a collection of findings resulting from glomerular dysfunction with an increase in glomerular capillary wall permeability associated with pronounced proteinuria. Nephrotic syndrome refers to the constellation of clinical findings that result from severe renal loss of protein, with Proteinuria and hypoalbuminemia, edema, and hyperlipidemia.

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Proteinuria

MedGen UID:: 10976
•Concept ID:: C0033687
•: Finding

Increased levels of protein in the urine.

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Diffuse mesangial sclerosis

MedGen UID:: 78698
•Concept ID:: C0268747
•: Disease or Syndrome

Diffuse sclerosis of the mesangium, as manifestated by diffuse mesangial matrix expansion.

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Stage 5 chronic kidney disease

MedGen UID:: 384526
•Concept ID:: C2316810
•: Disease or Syndrome

A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine.

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Edema

MedGen UID:: 4451
•Concept ID:: C0013604
•: Pathologic Function

An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.

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Hypoalbuminemia

MedGen UID:: 68694
•Concept ID:: C0239981
•: Finding

Reduction in the concentration of albumin in the blood.

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Abnormality of metabolism/homeostasis
- Edema
- Hypoalbuminemia
Abnormality of the genitourinary system

Professional guidelines

PubMed

Nutritional Management of Idiopathic Nephrotic Syndrome in Pediatric Age.

Lella G, Pecoraro L, Benetti E, Arnone OC, Piacentini G, Brugnara M, Pietrobelli A
Med Sci (Basel) 2023 Jul 28;11(3) doi: 10.3390/medsci11030047. PMID: 37606426 Free PMC Article

Management of congenital nephrotic syndrome: consensus recommendations of the ERKNet-ESPN Working Group.

Boyer O, Schaefer F, Haffner D, Bockenhauer D, Hölttä T, Bérody S, Webb H, Heselden M, Lipska-Zie Tkiewicz BS, Ozaltin F, Levtchenko E, Vivarelli M
Nat Rev Nephrol 2021 Apr;17(4):277-289. Epub 2021 Jan 29 doi: 10.1038/s41581-020-00384-1. PMID: 33514942 Free PMC Article

Nephrotic syndrome in infants and children: pathophysiology and management.

Downie ML, Gallibois C, Parekh RS, Noone DG
Paediatr Int Child Health 2017 Nov;37(4):248-258. Epub 2017 Sep 15 doi: 10.1080/20469047.2017.1374003. PMID: 28914167

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