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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.
See: This record
Autosomal dominant inheritance (Orphanet)
Not genetically inherited (Orphanet)
 
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

Long-term treatment with potassium citrate and renal stones in medullary sponge kidney.
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
Bone disease in medullary sponge kidney and effect of potassium citrate treatment.
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
ESWL and the future of stone management.
Eisenberger F, Schmidt A
World J Urol 1993;11(1):2-6. doi: 10.1007/BF00182162. PMID: 8098252

Recent clinical studies

Therapy

Spinal cord stimulation for visceral pain associated with medullary sponge kidney.
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
Chronic pain in medullary sponge kidney: a rare and never described clinical presentation.
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
Medullary sponge kidney: causes and treatments.
Pritchard MJ
Br J Nurs 2010 Aug 12-Sep 8;19(15):972-6. doi: 10.12968/bjon.2010.19.15.77693. PMID: 20966864
Bone disease in medullary sponge kidney and effect of potassium citrate treatment.
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
Prevention of calcium stones with thiazides.
Yendt ER, Cohanim M
Kidney Int 1978 May;13(5):397-409. doi: 10.1038/ki.1978.58. PMID: 351268

Prognosis

Ultrasound Patterns and Disease Progression in Medullary Sponge Kidney in Adults.
Gliga ML, Chirila C, Chirila PM
Ultrason Imaging 2023 May;45(3):151-155. Epub 2023 Apr 14 doi: 10.1177/01617346231165493. PMID: 37057397
Urinary proteome in inherited nephrolithiasis.
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
Medullary sponge kidney.
Gambaro G, Danza FM, Fabris A
Curr Opin Nephrol Hypertens 2013 Jul;22(4):421-6. doi: 10.1097/MNH.0b013e3283622b86. PMID: 23680648
Stones and urinary tract infections.
Miano R, Germani S, Vespasiani G
Urol Int 2007;79 Suppl 1:32-6. doi: 10.1159/000104439. PMID: 17726350
Medullary sponge kidney.
Kuiper JJ
Perspect Nephrol Hypertens 1976;4:151-71. PMID: 1264564

Clinical prediction guides

Ultrasound Patterns and Disease Progression in Medullary Sponge Kidney in Adults.
Gliga ML, Chirila C, Chirila PM
Ultrason Imaging 2023 May;45(3):151-155. Epub 2023 Apr 14 doi: 10.1177/01617346231165493. PMID: 37057397
Urinary proteome in inherited nephrolithiasis.
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
Characteristics of renal papillae in kidney stone formers.
Marien TP, Miller NL
Minerva Urol Nefrol 2016 Dec;68(6):496-515. Epub 2016 Jul 21 PMID: 27441596
Medullary sponge kidney.
Gambaro G, Danza FM, Fabris A
Curr Opin Nephrol Hypertens 2013 Jul;22(4):421-6. doi: 10.1097/MNH.0b013e3283622b86. PMID: 23680648
Medullary sponge kidney: state of the art.
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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