Glomerulocystic Kidney Disease With Hyperuricemia And Isosthenuria

Description

Glomerulocystic kidney disease is characterized by cystic dilatation of the Bowman space and the initial proximal convoluted tubule. Both sporadic and familial occurrences have been observed. Sharp et al. (1997) noted that GCKD had primarily been recognized in infants with a family history of classic, autosomal dominant polycystic kidney disease (PKD). However, dominantly transmitted GCKD associated with either hypoplastic or normal-sized kidneys has also been reported in older children and adults. Hypoplastic GCKD has been identified in some families with mutations in the TCF2 gene (OMIM ) as part of the clinical phenotype of renal cysts and diabetes syndrome (OMIM ).

Clinical Features

Phenotypes and symptoms related to Glomerulocystic Kidney Disease With Hyperuricemia And Isosthenuria

  • Renal insufficiency
  • Dilatation
  • Proteinuria
  • Abnormality of the kidney
  • Stage 5 chronic kidney disease
  • Renal cyst
  • Polycystic kidney dysplasia
  • Hyperuricemia
  • Abnormality of the renal tubule
  • Multiple glomerular cysts

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.

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.


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Glomerulocystic Kidney Disease With Hyperuricemia And Isosthenuria Recommended genes panels

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ExomePLUS Cystic Disease & Dysplasia/Agenesis.

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

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UMOD-Associated Kidney Disease.

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Polycystic kidney and liver disease modifier panel.

By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust (United Kingdom).

HNF1B, TSC1, TSC2, UMOD, DNAJB11, SEC61B, SEC61A1, SEC63, ALG8, DZIP1L, GANAB, LRP5, PKD1, PKD2, PKHD1, PRKCSH, REN
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UMOD. Sequencing of the exons 3 and 4.

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

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Specificity
100 %
Genes
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UMOD. Sequencing of the exons 3, 4, 5 and 7.

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

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Specificity
100 %
Genes
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UMOD. Complete sequencing.

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

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Specificity
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Sources and references

You can check the following sources for additional information.

MESH OMIM Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like NEVUS, EPIDERMAL PEDIATRIC HEPATOCELLULAR CARCINOMA HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, FAMILIAL PROGRESSIVE; FPHH MATURITY-ONSET DIABETES OF THE YOUNG; MODY DYSTONIA 16; DYT16 BRACHYDACTYLY, TYPE E1; BDE1

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