Bartter Syndrome, Type 5, Antenatal, Transient; Barts5

Description

Antenatal Bartter syndrome is a potentially life-threatening disease characterized by fetal polyuria, polyhydramnios, prematurity, and postnatal polyuria with persistent renal salt wasting. In transient antenatal Bartter syndrome-5, the onset of polyhydramnios and labor occur several weeks earlier than in other forms of Bartter syndrome. Polyuria lasts from a few days to 6 weeks, ending around 30 to 33 weeks of gestational age. Other features in the neonatal period include hypercalciuria, causing nephrocalcinosis in some cases, as well as hyponatremia, hypokalemia, and elevated renin and aldosterone; these subsequently resolve or normalize, although nephrocalcinosis may persist (Laghmani et al., 2016).

Clinical Features

Top most frequent phenotypes and symptoms related to Bartter Syndrome, Type 5, Antenatal, Transient; Barts5

  • Polyhydramnios
  • Premature birth
  • Nephrocalcinosis
  • Hypercalciuria
  • Hypokalemia
  • Hyponatremia
  • Polyuria
  • Hyperaldosteronism
  • Renal salt wasting
  • Alkalosis

And another 5 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Researches and researchers

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Bartter Syndrome, Type 5, Antenatal, Transient; Barts5 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Bartter syndrome and related disorders NGS panel.

By Connective Tissue Gene Tests (United States).

SLC12A1, SLC12A3, CASR, MAGED2, BSND, CLCNKA, CLCNKB, GNA11, KCNJ1
Specificity
12 %
Genes
100 %
Bartter syndrome and related disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests (United States).

SLC12A1, SLC12A3, CASR, MAGED2, BSND, CLCNKA, CLCNKB, GNA11, KCNJ1
Specificity
12 %
Genes
100 %
Bartter syndrome and related disorders Comprehensive panel.

By Connective Tissue Gene Tests (United States).

SLC12A1, SLC12A3, CASR, MAGED2, BSND, CLCNKA, CLCNKB, GNA11, KCNJ1
Specificity
12 %
Genes
100 %
Bartter syndrome.

By Institute of Human Genetics Uniklinik RWTH Aachen (Germany).

SLC12A1, MAGED2, BSND, CLCNKA, CLCNKB, KCNJ1
Specificity
17 %
Genes
100 %
Hereditary kidney disorders - different panels.

By Institute of Human Genetics Uniklinik RWTH Aachen (Germany).

BCS1L, ROBO2, CNNM2, CFB, SALL1, ATXN10, SCNN1A, SCNN1B, SCNN1G, SDCCAG8, SDHA, SDHB, SDHC, SDHD, BMP4, BMP7, SGPL1, SIX1, SIX2, SIX5 , (...)

View the complete list with 386 more genes
Specificity
1 %
Genes
100 %
MAGED2.

By Fulgent Genetics Fulgent Genetics (United States).

MAGED2
Specificity
100 %
Genes
100 %
KidneySeq - 264 Genes.

By Iowa Institute of Human Genetics University of Iowa (United States).

ROBO2, CNNM2, SALL1, ATXN10, SCNN1A, SCNN1B, SCNN1G, SDCCAG8, BMP4, SEMA3E, SGPL1, SIX1, SIX2, SIX5, SLC12A1, SLC17A5, SLC2A2, SLC34A1, SLC3A1, SLC4A4 , (...)

View the complete list with 230 more genes
Specificity
1 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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