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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

Etiology

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
Inherited renal diseases.
Leung JC
Curr Pediatr Rev 2014;10(2):95-100. doi: 10.2174/157339631002140513101755. PMID: 25088262
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
Renal cystic diseases.
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

Retrograde intrarenal surgery for stones associated with renal anomalies: caliceal diverticulum, horseshoe kidney, medullary sponge kidney, megacalycosis, pelvic kidney, uretero-pelvic junction obstruction.
Corrales M, Sierra A
Curr Opin Urol 2023 Jul 1;33(4):318-323. Epub 2023 Apr 4 doi: 10.1097/MOU.0000000000001093. PMID: 37014757
Medullary sponge kidney.
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
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
Imaging features of ductal plate malformations in adults.
Venkatanarasimha N, Thomas R, Armstrong EM, Shirley JF, Fox BM, Jackson SA
Clin Radiol 2011 Nov;66(11):1086-93. Epub 2011 Aug 15 doi: 10.1016/j.crad.2011.05.008. PMID: 21840516
Renal cystic diseases.
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

Complication and safety of ultrasound guided percutaneous nephrolithotomy in 8,025 cases in China.
Li J, Xiao B, Hu W, Yang B, Chen L, Hu H, Wang X
Chin Med J (Engl) 2014;127(24):4184-9. PMID: 25533819
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
Urinary acidification and urinary excretion of calcium and citrate in women with bilateral medullary sponge kidney.
Osther PJ, Mathiasen H, Hansen AB, Nissen HM
Urol Int 1994;52(3):126-30. doi: 10.1159/000282590. PMID: 8203049
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

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
Adult renal cystic disease: a genetic, biological, and developmental primer.
Katabathina VS, Kota G, Dasyam AK, Shanbhogue AK, Prasad SR
Radiographics 2010 Oct;30(6):1509-23. doi: 10.1148/rg.306105513. PMID: 21071372
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
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

Clinical prediction guides

Non-papillary prone percutaneous nephrolithotomy for renal abnormalities: single-institution experience.
Tsaturyan A, Faitatziadis S, Peteinaris A, Adamou C, Pagonis K, Natsos A, Vrettos T, Liatsikos E, Kallidonis P
World J Urol 2023 Feb;41(2):581-587. Epub 2022 Dec 22 doi: 10.1007/s00345-022-04254-2. PMID: 36547678
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
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

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