Medullary sponge kidney
Synonyms: Cacchi-Ricci disease · MSK · Precalicial canalicular ectasia
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- Adult, Childhood
- Status
- active
A rare renal tract malformation characterized by dilated malformation of the medullary collecting ducts (typically bilateral), and associated with stone formation, renal colic, hematuria, urinary tract infection, nephrocalcinosis, calcium nephrolithiasis, pyelonephritis, hypercalciuria and hypocitraturia. The disease is associated with abnormal distal tubular functions.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Medullary sponge kidney | Cacchi-Ricci disease · MSK · Precalicial canalicular ectasia |
| fr | Ectasie canaliculaire précalicielle | MSK · Maladie de Cacchi-Ricci |
| de | Markschwammniere | Cacchi-Ricci-Krankheit · MSK |
| es | Riñón esponjoso medular | Ectasia canalicular precalicial · Enfermedad de Cacchi-Ricci · Nefropatía medular quística |
| it | Rene con midollare a spugna | Ectasia canalicolare precaliceale · MSK · Malattia di Cacchi-Ricci |
| nl | Medullaire sponsnier | Precaliciële canaliculaire ectasie · Ziekte van Cacchi-Ricci · MSK |
| pt | Rim espongiforme medular | Doença Cacchi-Ricci · Ectasia canalicular pré-calicial · MSK |
| pl | Gąbczastość rdzenia nerki | Choroba Cacchi i Ricciego · MSK |
| cs | Medulární houbovitá ledvina | Cacchiho-Ricciho nemoc · MSK · Cacchi-Ricciho nemoc |
| uk | Губчаста нирка | Хвороба Какі-Річчі · MSK · Прекаріальна ектазія каналів |
| zh | 髓质海绵肾 | 髓质海绵肾 |
| tr | Medüller sünger böbrek | MSK · Cacchi-Ricci hastalığı · Prekalis kanaliküler ektazi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q61.5 | NTBT | inclusion | validated |
| ICD-11 | LB30.8 | E | specific | validated |
| MONDO | 0015268 | E | validated | |
| MeSH | D007691 | E | validated | |
| UMLS | C0022681 | E | validated | |
| GARD | 232 | E | validated | |
| MedDRA | 10027104 | 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:357506Genetic non-syndromic renal or urinary tract malformation
rare genetic diseases - ORPHA:93546Non-syndromic renal or urinary tract malformation
rare developmental anomalies during embryogenesis; rare renal diseases; rare transplant-related disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| HNF1B | Disease-causing germline mutation(s) in | Assessed | HGNC:11630 | ENSG00000275410 | 189907 | 17q12 | HNF1 homeobox B | 33305128[PMID] |
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
5 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000787 | Nephrolithiasis | |
| Frequent (79-30%) | ||
| HP:0008341 | Distal renal tubular acidosis | |
| HP:0000790 | Hematuria | |
| HP:0002150 | Hypercalciuria | |
| Occasional (29-5%) | ||
| HP:0001528 | Hemihypertrophy | |
Run the differential on the 1 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1309
- This record as JSON: /data/d/1309.json