Parenteral nutrition-associated cholestasis
Synonyms: PNAC
- Type
- Particular clinical situation in a disease or syndrome
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- All ages
- Status
- active
A rare hepatic disease characterized by intrahepatic cholestasis and deterioration of liver function in patients receiving parenteral nutrition for extended periods of time (signs may appear as early as within the first two weeks of initiation of parenteral nutrition). The condition commonly occurs in neonates and usually resolves with transition to enteral feeding, although severe cases may progress to liver fibrosis, cirrhosis, and portal hypertension.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Parenteral nutrition-associated cholestasis | PNAC |
| fr | Cholestase liée à la nutrition parentérale | = en |
| de | Parenterale Ernährung-assoziierte Cholestase | = en |
| es | Colestasis asociada a nutrición parenteral | CANPT |
| it | Colestasi da nutrizione parenterale | = en |
| nl | Cholestase geassocieerd met parenterale voeding | = en |
| pt | Colestase associada a nutrição parentérica | |
| pl | Żywienie parenteralne z towarzyszacą cholestazą | = en |
| cs | Cholestáza spojená s parenterální výživou | = en |
| uk | Парентеральний холестаз, асоційований з харчуванням | = en |
| zh | 肠外营养相关的胆汁淤积症 | = en |
| tr | Parenteral beslenme-ilişkili kolestaz | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | K76.8 | NTBT | attributed | validated |
| ICD-11 | DB99.60 | E | specific | validated |
| MONDO | 35777 | E | validated | |
| UMLS | C3274301 | E | validated | |
| MedDRA | 10074151 | 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 (1):
- ORPHA:101941Rare biliary tract disease
rare hepatic diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| 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
22 annotations · validated 2021-06-30| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0002027 | Abdominal pain | |
| HP:0004359 | Abnormal circulating fatty-acid concentration | |
| HP:0032245 | Abnormal metabolism | |
| HP:0011113 | Abnormality of cytokine secretion | |
| HP:0006560 | Biliary hyperplasia | |
| HP:0003155 | Elevated circulating alkaline phosphatase concentration | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0030948 | Elevated gamma-glutamyltransferase level | |
| HP:0001399 | Hepatic failure | |
| HP:0002240 | Hepatomegaly | |
| HP:0003077 | Hyperlipidemia | |
| HP:0000952 | Jaundice | |
| HP:0001622 | Premature birth | |
| HP:0001518 | Small for gestational age | |
| HP:0001744 | Splenomegaly | |
| HP:0011473 | Villous atrophy | |
| Occasional (29-5%) | ||
| HP:0001081 | Cholelithiasis | |
| HP:0001394 | Cirrhosis | |
| HP:0002908 | Conjugated hyperbilirubinemia | |
| HP:0001395 | Hepatic fibrosis | |
| HP:0001397 | Hepatic steatosis | |
| HP:0001409 | Portal hypertension | |
Annotation source: 31872510[PMID]_32728621[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/567983
- This record as JSON: /data/d/567983.json