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Medullary sponge kidney

MedGen UID:
5970
Concept ID:
C0022681
Congenital Abnormality; Disease or Syndrome
Synonyms: Cacchi Ricci disease; Cacchi-Ricci syndrome; Cystic dilatation of renal collecting tubes; Precalyceal canalicular ectasia; Sponge kidney
SNOMED CT: Medullary sponge kidney (236443009)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Monarch Initiative: MONDO:0015268
Orphanet: ORPHA1309

Definition

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. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMedullary sponge kidney
Follow this link to review classifications for Medullary sponge kidney in Orphanet.

Professional guidelines

PubMed

Fabris A, Lupo A, Bernich P, Abaterusso C, Marchionna N, Nouvenne A, Gambaro G
Clin J Am Soc Nephrol 2010 Sep;5(9):1663-8. Epub 2010 Jun 24 doi: 10.2215/CJN.00220110. PMID: 20576821Free PMC Article
Fabris A, Bernich P, Abaterusso C, Marchionna N, Canciani C, Nouvenne A, Zamboni M, Lupo A, Gambaro G
Clin J Am Soc Nephrol 2009 Dec;4(12):1974-9. Epub 2009 Sep 17 doi: 10.2215/CJN.02360409. PMID: 19808216Free PMC Article
Eisenberger F, Schmidt A
World J Urol 1993;11(1):2-6. doi: 10.1007/BF00182162. PMID: 8098252

Recent clinical studies

Etiology

Gliga ML, Chirila C, Chirila PM
Ultrason Imaging 2023 May;45(3):151-155. Epub 2023 Apr 14 doi: 10.1177/01617346231165493. PMID: 37057397
Filler G, de Ferris MED, Elliott L
Pediatr Transplant 2021 Aug;25(5):e14062. Epub 2021 Jun 2 doi: 10.1111/petr.14062. PMID: 34076958
Leung JC
Curr Pediatr Rev 2014;10(2):95-100. doi: 10.2174/157339631002140513101755. PMID: 25088262
Gambaro G, Danza FM, Fabris A
Curr Opin Nephrol Hypertens 2013 Jul;22(4):421-6. doi: 10.1097/MNH.0b013e3283622b86. PMID: 23680648
Thomsen HS, Levine E, Meilstrup JW, Van Slyke MA, Edgar KA, Barth JC, Hartman DS
Eur Radiol 1997;7(8):1267-75. doi: 10.1007/s003300050288. PMID: 9377514

Diagnosis

Gliga ML, Chirila C, Chirila PM
Ultrason Imaging 2023 May;45(3):151-155. Epub 2023 Apr 14 doi: 10.1177/01617346231165493. PMID: 37057397
Capolongo G, Zacchia M, Perna A, Viggiano D, Capasso G
Urolithiasis 2019 Feb;47(1):91-98. Epub 2018 Dec 18 doi: 10.1007/s00240-018-01104-y. PMID: 30564846
Xiang H, Han J, Ridley WE, Ridley LJ
J Med Imaging Radiat Oncol 2018 Oct;62 Suppl 1:93-94. doi: 10.1111/1754-9485.40_12784. PMID: 30309197
Gambaro G, Danza FM, Fabris A
Curr Opin Nephrol Hypertens 2013 Jul;22(4):421-6. doi: 10.1097/MNH.0b013e3283622b86. PMID: 23680648
Thomsen HS, Levine E, Meilstrup JW, Van Slyke MA, Edgar KA, Barth JC, Hartman DS
Eur Radiol 1997;7(8):1267-75. doi: 10.1007/s003300050288. PMID: 9377514

Therapy

Noordin NS, Cox CJ, Wilkinson MM, Sivanesan E, Chen Y
Pain Manag 2023 Nov;13(11):641-646. Epub 2023 Nov 6 doi: 10.2217/pmt-2023-0075. PMID: 37929332
Cicerello E, Ciaccia M, Cova G, Mangano M
Arch Ital Urol Androl 2019 Jul 2;91(2) doi: 10.4081/aiua.2019.2.102. PMID: 31266277
Gambaro G, Goldfarb DS, Baccaro R, Hirsch J, Topilow N, D'Alonzo S, Gambassi G, Ferraro PM
J Nephrol 2018 Aug;31(4):537-542. Epub 2018 Feb 21 doi: 10.1007/s40620-018-0480-8. PMID: 29468561
Pritchard MJ
Br J Nurs 2010 Aug 12-Sep 8;19(15):972-6. doi: 10.12968/bjon.2010.19.15.77693. PMID: 20966864
Fabris A, Bernich P, Abaterusso C, Marchionna N, Canciani C, Nouvenne A, Zamboni M, Lupo A, Gambaro G
Clin J Am Soc Nephrol 2009 Dec;4(12):1974-9. Epub 2009 Sep 17 doi: 10.2215/CJN.02360409. PMID: 19808216Free PMC Article

Prognosis

Gliga ML, Chirila C, Chirila PM
Ultrason Imaging 2023 May;45(3):151-155. Epub 2023 Apr 14 doi: 10.1177/01617346231165493. PMID: 37057397
Capolongo G, Zacchia M, Perna A, Viggiano D, Capasso G
Urolithiasis 2019 Feb;47(1):91-98. Epub 2018 Dec 18 doi: 10.1007/s00240-018-01104-y. PMID: 30564846
Gambaro G, Danza FM, Fabris A
Curr Opin Nephrol Hypertens 2013 Jul;22(4):421-6. doi: 10.1097/MNH.0b013e3283622b86. PMID: 23680648
Fabris A, Bernich P, Abaterusso C, Marchionna N, Canciani C, Nouvenne A, Zamboni M, Lupo A, Gambaro G
Clin J Am Soc Nephrol 2009 Dec;4(12):1974-9. Epub 2009 Sep 17 doi: 10.2215/CJN.02360409. PMID: 19808216Free PMC Article
Miano R, Germani S, Vespasiani G
Urol Int 2007;79 Suppl 1:32-6. doi: 10.1159/000104439. PMID: 17726350

Clinical prediction guides

Gliga ML, Chirila C, Chirila PM
Ultrason Imaging 2023 May;45(3):151-155. Epub 2023 Apr 14 doi: 10.1177/01617346231165493. PMID: 37057397
Capolongo G, Zacchia M, Perna A, Viggiano D, Capasso G
Urolithiasis 2019 Feb;47(1):91-98. Epub 2018 Dec 18 doi: 10.1007/s00240-018-01104-y. PMID: 30564846
Gambaro G, Goldfarb DS, Baccaro R, Hirsch J, Topilow N, D'Alonzo S, Gambassi G, Ferraro PM
J Nephrol 2018 Aug;31(4):537-542. Epub 2018 Feb 21 doi: 10.1007/s40620-018-0480-8. PMID: 29468561
Gambaro G, Danza FM, Fabris A
Curr Opin Nephrol Hypertens 2013 Jul;22(4):421-6. doi: 10.1097/MNH.0b013e3283622b86. PMID: 23680648
Fabris A, Anglani F, Lupo A, Gambaro G
Nephrol Dial Transplant 2013 May;28(5):1111-9. Epub 2012 Dec 9 doi: 10.1093/ndt/gfs505. PMID: 23229933

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