ORPHA:567548

Idiopathic steroid-resistant nephrotic syndrome

Synonyms: Idiopathic SRNS

Type: Clinical syndrome
Group: Disorder
Inheritance: Not applicable
Age of onset: Adolescent, Adult, Childhood
Status: active

A rare, idiopathic nephrotic syndrome characterized by the triad of proteinuria, hypoalbuminemia and edema in patients who do not respond, or only partially respond, to the initial trial of corticosteroids. Patients may be multidrug resistant or may be sensitive to second-line immunosuppressive therapy.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Idiopathic steroid-resistant nephrotic syndrome	Idiopathic SRNS
fr	Syndrome néphrotique corticorésistant idiopathique	SNCR idiopathique · Syndrome néphrotique idiopathique avec résistance aux stéroïdes
de	Idiopathisches steroid-resistentes nephrotisches Syndrom	Idiopathisches SRNS
es	Síndrome nefrótico idiopático resistente a esteroides	SNRS idiopático
it	Sindrome nefrosica idiopatica resistente agli steroidi	SRNS idiopatica
nl	Idiopathisch steroïdresistent nefrotisch syndroom	Idiopathisch SRNS
pt	Síndrome nefrótica corticorresistente idiopática	SRNS idiopática
pl	Idiopatyczny zespół nerczycowy oporny na sterydy	= en
cs	Idiopatický nefrotický syndrom rezistentní na steroidy	= en
uk	Ідіопатичний стероїдорезистентний нефротичний синдром	Ідіопатичний SRNS
zh	特发性类固醇抵抗肾病综合征	= en
tr	İdiyopatik steroide dirençli nefrotik sendrom	İdiyopatik SRNS

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
ICD-10	N04.8	NTBT	attributed	validated
ICD-11	GB41	NTBT	attributed	validated
MONDO	0031008	E		validated
MeSH	C536404	E		validated
UMLS	C1868672	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Classification

Preferential parent (Orphanet linearisation):

ORPHA:93626Rare renal disease

Parents in the classifications (1):

ORPHA:357502Idiopathic nephrotic syndrome
rare renal diseases; rare transplant-related disorders

Children (2):

Genes

0 direct

Orphanet records no gene directly on this code.

Prevalence and incidence

2 records

Type	Class	Value	Area	Qualification	Validation	Source
Annual incidence	1-9 / 1 000 000	0.2582 / 100 000	Worldwide	Value and class	Validated	30552564[PMID]_ORPHANET
Point prevalence	Unknown	—	Worldwide	Class only	Validated	ORPHANET

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

HPO phenotypes

24 annotations · validated 2021-06-17

HPO	Term (as annotated by Orphanet)	Diagnostic
Very frequent (99-80%)
HP:0003119	Abnormal circulating lipid concentration
HP:0031265	Abnormal podocyte morphology
HP:0003073	Hypoalbuminemia
HP:0000093	Proteinuria
Frequent (79-30%)
HP:0000969	Edema
HP:0000097	Focal segmental glomerulosclerosis
HP:0003124	Hypercholesterolemia
HP:0100724	Hypercoagulability
HP:0002155	Hypertriglyceridemia
HP:0012579	Minimal change glomerulonephritis
Occasional (29-5%)
HP:0002027	Abdominal pain
HP:0012590	Abnormal urine output
HP:0001919	Acute kidney injury
HP:0001945	Fever
HP:0031504	Foamy urine
HP:0002315	Headache
HP:0100539	Periorbital edema
HP:0011947	Respiratory tract infection
HP:0003774	Stage 5 chronic kidney disease
Very rare (<4-1%)
HP:0001967	Diffuse mesangial sclerosis
HP:0001510	Growth delay
HP:0002586	Peritonitis
HP:0002204	Pulmonary embolism
HP:0004936	Venous thrombosis

Run the differential on the 4 obligate / very frequent terms

Annotation source: 32382828[PMID]_29910038[PMID]_31831576[PMID]

Sources for this card

Orphanet page: orpha.net/en/disease/detail/567548
This record as JSON: /data/d/567548.json