Medullary Sponge Kidney

Description

Medullary cystic kidney disease (MCKD) is an autosomal dominant form of tubulointerstitial nephropathy characterized by formation of renal cysts at the corticomedullary junction. It is characterized by adult onset of impaired renal function and salt wasting resulting in end-stage renal failure by the sixth decade (Wolf et al., 2004).Although early reports suggested that medullary cystic kidney disease and familial juvenile nephronophthisis (NPHP1 ) represented the same disease entity because of the overlapping phenotype (Chamberlin et al., 1977), they are now considered to be distinct disorders. MCKD has adult onset and shows autosomal dominant inheritance, whereas NPHP1 has juvenile onset and shows autosomal recessive inheritance (Christodoulou et al., 1998). NPHP1 is caused by mutation in the nephrocystin gene (NPHP1 ) on chromosome 2q13. Genetic Heterogeneity of Medullary Cystic Kidney DiseaseSee also MCKD2 (OMIM ), which is caused by mutation in the UMOD gene (OMIM ) on chromosome 16p.

Clinical Features

Top most frequent phenotypes and symptoms related to Medullary Sponge Kidney

  • Pain
  • Anemia
  • Hypertension
  • Renal insufficiency
  • Cerebral cortical atrophy
  • Proteinuria
  • Abnormality of the kidney
  • Stage 5 chronic kidney disease
  • Hematuria
  • Nephropathy

And another 34 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Medullary Sponge Kidney Is also known as cacchi-ricci disease, msk, medullary cystic kidney disease, autosomal dominant, admckd1, polycystic kidneys, medullary type, mckd, precalicial canalicular ectasia.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


Mendelian

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Medullary Sponge Kidney Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Renal Cystic Disorders Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

SALL1, SDCCAG8, HNF1B, TFAP2A, TSC1, TSC2, CEP41, UMOD, VHL, ARL6, NEK8, TMEM237, TRIM32, CDC73, INVS, CEP83, DCDC2, WDR19, CRB2, BBS7 , (...)

View the complete list with 55 more genes
Specificity
2 %
Genes
100 %
ExomePLUS Cystic Disease & Dysplasia/Agenesis.

By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine (United States).

BMP4, HNF1B, TSC1, TSC2, UMOD, WT1, INVS, NPHP4, FRAS1, ANKS6, IQCB1, CEP290, EYA1, GATA3, MUC1, NPHP1, NPHP3, PAX2, PKD2, PKHD1 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
MUC1. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

MUC1
Specificity
100 %
Genes
100 %
MCKD1.

By Centre de Genetique Humaine Institut de Pathologie et de Genetique (Belgium).

MUC1
Specificity
100 %
Genes
100 %
Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

ROBO2, SALL1, BMP4, BMP7, SIX1, SIX2, SIX5, SOX11, TBX18, HNF1B, UMOD, UPK3A, WNT4, TRAP1, SRGAP1, CDC5L, SOX17, HPSE2, GRIP1, CHD1L , (...)

View the complete list with 27 more genes
Specificity
3 %
Genes
100 %
Hereditary Cystic Kidney Diseases Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SDCCAG8, HNF1B, TSC1, TSC2, UMOD, VHL, NEK8, DNAJB11, ZNF423, DICER1, INVS, CEP83, DCDC2, SEC61A1, WDR19, CRB2, NPHP4, COL4A1, TTC21B, OFD1 , (...)

View the complete list with 21 more genes
Specificity
3 %
Genes
100 %
Polycystic kidney disease and related disorders NGS panel.

By Connective Tissue Gene Tests (United States).

HNF1B, TSC1, TSC2, UMOD, ALG9, ZNF423, INVS, SEC61A1, BICC1, OFD1, ANKS6, GLIS3, TMEM231, GANAB, LRP5, MUC1, NOTCH2, NPHP3, ATP6V0A4, PKD1 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
Polycystic kidney disease and related disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests (United States).

HNF1B, TSC1, TSC2, UMOD, ALG9, ZNF423, INVS, SEC61A1, BICC1, OFD1, ANKS6, GLIS3, TMEM231, GANAB, LRP5, MUC1, NOTCH2, NPHP3, ATP6V0A4, PKD1 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Genetic Syndrome Finder

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