Nephrotic syndrome, type 2(NPHS2)

MedGen UID:: 358380
•Concept ID:: C1868672
•: Disease or Syndrome

Synonyms:	Hereditary nephrotic syndrome; Nephrotic syndrome, steroid-resistant, autosomal recessive; NPHS2
SNOMED CT:	Idiopathic steroid-resistant nephrotic syndrome (1260194003); Idiopathic SRNS (steroid-resistant nephrotic syndrome) (1260194003)

Gene (location): Gene(s) directly associated with this condition or phenotype.	NPHS2 (1q25.2)

Monarch Initiative:	MONDO:0010974
OMIM®:	600995

Definition

Steroid-resistant nephrotic syndrome type 2 is an autosomal recessive disorder characterized clinically by childhood onset of proteinuria, hypoalbuminemia, hyperlipidemia, and edema. Kidney biopsies show nonspecific histologic changes such as minimal change, focal segmental glomerulosclerosis (FSGS), and diffuse mesangial proliferation. The disorder is resistant to steroid treatment and progresses to end-stage renal failure in the first or second decades (summary by Fuchshuber et al., 1996). Some patients show later onset of the disorder (Tsukaguchi et al., 2002). For a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome and FSGS, see NPHS1 (256300). [from OMIM]

Additional description

From MedlinePlus Genetics
The features of congenital nephrotic syndrome are caused by failure of the kidneys to filter waste products from the blood and remove them in urine. Signs and symptoms of this condition are excessive protein in the urine (proteinuria), increased cholesterol in the blood (hypercholesterolemia), an abnormal buildup of fluid in the abdominal cavity (ascites), and swelling (edema). Affected individuals may also have blood in the urine (hematuria), which can lead to a reduced number of red blood cells (anemia) in the body, abnormal blood clotting, or reduced amounts of certain white blood cells. Low white blood cell counts can lead to a weakened immune system and frequent infections in people with congenital nephrotic syndrome.

Children with congenital nephrotic syndrome typically develop end-stage renal disease between ages 2 and 8, although with treatment, some may not have kidney failure until adolescence or early adulthood.

Congenital nephrotic syndrome is a kidney condition that begins in infancy and typically leads to irreversible kidney failure (end-stage renal disease) by early childhood. Children with congenital nephrotic syndrome begin to have symptoms of the condition between birth and 3 months. https://medlineplus.gov/genetics/condition/congenital-nephrotic-syndrome

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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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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Hyperlipidemia

MedGen UID:: 5692
•Concept ID:: C0020473
•: Disease or Syndrome

An elevated lipid concentration in the blood.

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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
Abnormality of the genitourinary system

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

Familial idiopathic steroid-resistant nephrotic syndrome
- Hereditary Nephrotic Syndromes, Autosomal Recessive
  - Nephrotic syndrome, type 2

Professional guidelines

PubMed

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

Congenital nephrotic syndrome: is early aggressive treatment needed?-No.

Boyer O, Bérody S
Pediatr Nephrol 2020 Oct;35(10):1991-1996. Epub 2020 May 27 doi: 10.1007/s00467-020-04556-w. PMID: 32462257

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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