Primary renal tubular acidosis
- Type
- Clinical group
- Group
- Group of disorders
- Status
- active
A group of rare renal tubular diseases characterized by primary defects in bicarbonate reabsorption from urine (proximal renal tubular acidosis) and/or hydrogen excretion into the lumen (distal renal tubular acidosis), resulting in metabolic acidosis with hyperchloremia and a normal plasma anion gap. The glomerular filtration rate is relatively normal.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Primary renal tubular acidosis | |
| fr | Acidose tubulaire rénale primitive | |
| de | Azidose, renale tubuläre, primäre | |
| es | Acidosis tubular renal primaria | |
| it | Acidosi primitiva dei tubuli renali | |
| nl | Primaire renale tubulaire acidose | |
| pt | Acidose tubular renal primária | |
| pl | Pierwotna kwasica kanalikowa nerek | |
| cs | Primární renální tubulární acidóza | |
| uk | Первинний нирковий тубулярний ацидоз | |
| zh | 原发性肾小管性酸中毒 | |
| tr | Primer renal tübüler asidoz |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 17828 | E | validated | |
| UMLS | C5680966 | E | validated | |
| GARD | 7552 | 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:183592Genetic renal tubular disease
rare genetic diseases - ORPHA:93603Rare renal tubular disease
rare renal diseases
Codes that Orphanet moved or referred to this one:
- ORPHA:2675OBSOLETE: Neuroaxonal dystrophy-renal tubular acidosis syndrome referred to · inactive
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/314822
- This record as JSON: /data/d/314822.json