Karyomegalic interstitial nephritis
Synonyms: KIN · Systemic karyomegaly
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adult
- Status
- active
A rare, genetic renal disease characterized by slowly progressive, chronic, tubulointerstitial nephritis, leading to end-stage renal disease before the age of 50 years, manifesting with mild proteinuria, glucosuria and, occasionally, urinary sediment abnormalities (mainly hematuria). Mild extrarenal manifestations, such as recurrent upper respiratory tract infections and abnormal liver function tests, may be associated. Renal biopsy reveals severe, chronic, interstitial fibrosis and tubular changes, as well as hallmark karyomegalic tubular epithelial cells which line the proximal and distal tubules and have enlarged, hyperchromatic nuclei.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Karyomegalic interstitial nephritis | KIN · Systemic karyomegaly |
| fr | Néphrite interstitielle caryomégalique | Caryomégalie systémique · KIN |
| de | Karyomegale interstitielle Nephritis | KIN · Systemische Karyomegalie |
| es | Nefritis intersticial cariomegálica | Cariomegalia sistémica · KIN |
| it | Nefrite interstiziale cariomegalica | Cariomegalia sistemica · KIN |
| nl | Interstitiële nefritis met karyomegalie | KIN · Systemische karyomegalie |
| pt | Nefrite intersticial cariomegálica | |
| pl | Wielkojądrowe śródmiąższowe zapalenie nerek | Kariomegalia układowa · KIN |
| cs | Karyomegalická intersticiální nefritida | KIN · Systémová karyomegalie |
| uk | Каріомегалічний інтерстиціальний нефрит | KIN · Системна каріомегалія |
| zh | 巨核细胞性间质性肾炎 | 系统性核巨大 |
| tr | Karyomegalik interstisyel nefrit | KIN · Sistemik karyomegali |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614817 | E | validated | |
| ICD-10 | N11.8 | NTBT | attributed | validated |
| ICD-11 | GB55.Y | NTBT | attributed | validated |
| MONDO | 0013898 | E | validated | |
| UMLS | C3553774 | E | validated | |
| GARD | 11003 | 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):
Parents in the classifications (2):
- ORPHA:93587Genetic cystic renal disease
rare genetic diseases; rare renal diseases - ORPHA:506213Rare disorder potentially indicated for kidney transplant
rare transplant-related disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FAN1 | Disease-causing germline mutation(s) in | Assessed | HGNC:29170 | ENSG00000198690 | 613534 | 15q13.3 | FANCD2 and FANCI associated nuclease 1 | 22772369[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 12 families | Worldwide | Family(ies) | Validated | 22772369[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_22772369[PMID] |
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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/401996
- This record as JSON: /data/d/401996.json