Details of Disease | DrugMAP

General Information of Disease (ID: DISA0949)

Disease Name	Medullary sponge kidney
Synonyms	sponge kidney; Precalyceal canalicular ectasia; Cacchi-Ricci syndrome; Cacchi Ricci disease; cystic dilatation of renal collecting tubes; MSK; Precalicial canalicular ectasia; Cacchi-Ricci disease
Definition	Medullary sponge kidney (MSK) is a birth defect of the tubules - tiny tubes inside the kidneys. In a normal kidney, urine flows through these tubules as it is being formed. In MSK, tiny sacs called cysts form in the medulla (the inner part of the kidney), creating a sponge-like appearance. The cysts keep urine from flowing freely through the tubules. MSK is present at birth but symptoms typically do not occur until adolescence or adulthood. Problems caused by MSK include blood in the urine, kidney stones, and urinary tract infections. MSK rarely leads to more serious problems, such as total kidney failure. There is no cure for this condition, so treatment is aimed at removing kidney stones and treating urinary tract infections with antibiotics.
Disease Hierarchy	DISQCXZX: Disorder of development or morphogenesis DISRT1LM: Cystic kidney disease DISA0949: Medullary sponge kidney
Disease Identifiers	MONDO ID MONDO_0015268 MESH ID D007691 UMLS CUI C0022681 MedGen ID 5970 Orphanet ID 1309 SNOMED CT ID 236443009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 6 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
HNF1B	OTSYIC3T	Supportive	Autosomal dominant	[1]
ATP6V1B1	OT8FQ7MN	Strong	Genetic Variation	[2]
FCN1	OTK6ZHXH	Strong	Biomarker	[3]
LAMA2	OTFROQWE	Strong	Biomarker	[4]
PKHD1	OTAH8SMF	Strong	Genetic Variation	[5]
TMEM218	OTM46L89	Strong	Biomarker	[6]
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⏷ Show the Full List of 6 DOT(s)

References

1	Variable Expressivity of HNF1B Nephropathy, From Renal Cysts and Diabetes to Medullary Sponge Kidney Through Tubulo-interstitial Kidney Disease. Kidney Int Rep. 2020 Oct 7;5(12):2341-2350. doi: 10.1016/j.ekir.2020.09.042. eCollection 2020 Dec.
2	Medullary sponge kidney associated with primary distal renal tubular acidosis and mutations of the H+-ATPase genes.Nephrol Dial Transplant. 2009 Sep;24(9):2734-8. doi: 10.1093/ndt/gfp160. Epub 2009 Apr 13.
3	Proteomic Analysis of Urinary Extracellular Vesicles Reveals a Role for the Complement System in Medullary Sponge Kidney Disease.Int J Mol Sci. 2019 Nov 5;20(21):5517. doi: 10.3390/ijms20215517.
4	Breaking the ice: urine proteomics of medullary sponge kidney disease.Kidney Int. 2017 Feb;91(2):281-283. doi: 10.1016/j.kint.2016.10.032.
5	Heterozygous Pkhd1(C642*) mice develop cystic liver disease and proximal tubule ectasia that mimics radiographic signs of medullary sponge kidney.Am J Physiol Renal Physiol. 2019 Mar 1;316(3):F463-F472. doi: 10.1152/ajprenal.00181.2018. Epub 2019 Jan 2.
6	Nephronophthisis and retinal degeneration in tmem218-/- mice: a novel mouse model for Senior-L?ken syndrome?. Vet Pathol. 2015 May;52(3):580-95. doi: 10.1177/0300985814547392. Epub 2014 Aug 26.