Congenital chloride diarrhea needs to be distinguished from Bartter and Gitelman syndrome

Natsuki Matsunoshita, Kandai Nozu, Masahide Yoshikane, Azusa Kawaguchi, Naoya Fujita, Naoya Morisada, Shingo Ishimori, Tomohiko Yamamura, Shogo Minamikawa, Tomoko Horinouchi, Keita Nakanishi, Junya Fujimura, Takeshi Ninchoji, Ichiro Morioka, Hiroaki Nagase, Mariko Ikeda, Hiroshi Kaito, Kazumoto Iijima

Research output: Contribution to journalArticle

3 Citations (Scopus)

Abstract

Pseudo-Bartter/Gitelman syndrome (p-BS/GS) encompasses a clinically heterogeneous group of inherited or acquired disorders similar to Bartter syndrome (BS) or Gitelman syndrome (GS), both renal salt-losing tubulopathies. Phenotypic overlap frequently occurs between p-BS/GS and BS/GS, which are difficult to diagnose based on their clinical presentation and require genetic tests for accurate diagnosis. In addition, p-BS/GS can occur as a result of other inherited diseases such as cystic fibrosis, autosomal dominant hypocalcemia, Dent disease, or congenital chloride diarrhea (CCD). However, the detection of the variants in genes other than known BS/GS-causing genes by conventional Sanger sequencing requires substantial time and resources. We studied 27 cases clinically diagnosed with BS/GS, but with negative genetic tests for known BS/GS genes. We conducted targeted sequencing for 22 genes including genes responsible for tubulopathies and other inherited diseases manifesting with p-BS/GS symptoms. We detected the SLC26A3 gene variants responsible for CCD in two patients. In Patient 1, we found the SLC26A3 compound heterozygous variants: c.354delC and c.1008insT. In Patient 2, we identified the compound heterozygous variants: c.877G > A, p.(Glu293Lys), and c.1008insT. Our results suggest that a comprehensive genetic screening system using targeted sequencing is useful for the diagnosis of patients with p-BS/GS with alternative genetic origins.

Original languageEnglish
Pages (from-to)887-892
Number of pages6
JournalJournal of Human Genetics
Volume63
Issue number8
DOIs
Publication statusPublished - 01-07-2018

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Gitelman Syndrome
Bartter Syndrome
Genes
Dent Disease
Congenital chloride diarrhea
Genetic Testing
Cystic Fibrosis

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

Cite this

Matsunoshita, N., Nozu, K., Yoshikane, M., Kawaguchi, A., Fujita, N., Morisada, N., ... Iijima, K. (2018). Congenital chloride diarrhea needs to be distinguished from Bartter and Gitelman syndrome. Journal of Human Genetics, 63(8), 887-892. https://doi.org/10.1038/s10038-018-0470-7
Matsunoshita, Natsuki ; Nozu, Kandai ; Yoshikane, Masahide ; Kawaguchi, Azusa ; Fujita, Naoya ; Morisada, Naoya ; Ishimori, Shingo ; Yamamura, Tomohiko ; Minamikawa, Shogo ; Horinouchi, Tomoko ; Nakanishi, Keita ; Fujimura, Junya ; Ninchoji, Takeshi ; Morioka, Ichiro ; Nagase, Hiroaki ; Ikeda, Mariko ; Kaito, Hiroshi ; Iijima, Kazumoto. / Congenital chloride diarrhea needs to be distinguished from Bartter and Gitelman syndrome. In: Journal of Human Genetics. 2018 ; Vol. 63, No. 8. pp. 887-892.
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abstract = "Pseudo-Bartter/Gitelman syndrome (p-BS/GS) encompasses a clinically heterogeneous group of inherited or acquired disorders similar to Bartter syndrome (BS) or Gitelman syndrome (GS), both renal salt-losing tubulopathies. Phenotypic overlap frequently occurs between p-BS/GS and BS/GS, which are difficult to diagnose based on their clinical presentation and require genetic tests for accurate diagnosis. In addition, p-BS/GS can occur as a result of other inherited diseases such as cystic fibrosis, autosomal dominant hypocalcemia, Dent disease, or congenital chloride diarrhea (CCD). However, the detection of the variants in genes other than known BS/GS-causing genes by conventional Sanger sequencing requires substantial time and resources. We studied 27 cases clinically diagnosed with BS/GS, but with negative genetic tests for known BS/GS genes. We conducted targeted sequencing for 22 genes including genes responsible for tubulopathies and other inherited diseases manifesting with p-BS/GS symptoms. We detected the SLC26A3 gene variants responsible for CCD in two patients. In Patient 1, we found the SLC26A3 compound heterozygous variants: c.354delC and c.1008insT. In Patient 2, we identified the compound heterozygous variants: c.877G > A, p.(Glu293Lys), and c.1008insT. Our results suggest that a comprehensive genetic screening system using targeted sequencing is useful for the diagnosis of patients with p-BS/GS with alternative genetic origins.",
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Matsunoshita, N, Nozu, K, Yoshikane, M, Kawaguchi, A, Fujita, N, Morisada, N, Ishimori, S, Yamamura, T, Minamikawa, S, Horinouchi, T, Nakanishi, K, Fujimura, J, Ninchoji, T, Morioka, I, Nagase, H, Ikeda, M, Kaito, H & Iijima, K 2018, 'Congenital chloride diarrhea needs to be distinguished from Bartter and Gitelman syndrome', Journal of Human Genetics, vol. 63, no. 8, pp. 887-892. https://doi.org/10.1038/s10038-018-0470-7

Congenital chloride diarrhea needs to be distinguished from Bartter and Gitelman syndrome. / Matsunoshita, Natsuki; Nozu, Kandai; Yoshikane, Masahide; Kawaguchi, Azusa; Fujita, Naoya; Morisada, Naoya; Ishimori, Shingo; Yamamura, Tomohiko; Minamikawa, Shogo; Horinouchi, Tomoko; Nakanishi, Keita; Fujimura, Junya; Ninchoji, Takeshi; Morioka, Ichiro; Nagase, Hiroaki; Ikeda, Mariko; Kaito, Hiroshi; Iijima, Kazumoto.

In: Journal of Human Genetics, Vol. 63, No. 8, 01.07.2018, p. 887-892.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Congenital chloride diarrhea needs to be distinguished from Bartter and Gitelman syndrome

AU - Matsunoshita, Natsuki

AU - Nozu, Kandai

AU - Yoshikane, Masahide

AU - Kawaguchi, Azusa

AU - Fujita, Naoya

AU - Morisada, Naoya

AU - Ishimori, Shingo

AU - Yamamura, Tomohiko

AU - Minamikawa, Shogo

AU - Horinouchi, Tomoko

AU - Nakanishi, Keita

AU - Fujimura, Junya

AU - Ninchoji, Takeshi

AU - Morioka, Ichiro

AU - Nagase, Hiroaki

AU - Ikeda, Mariko

AU - Kaito, Hiroshi

AU - Iijima, Kazumoto

PY - 2018/7/1

Y1 - 2018/7/1

N2 - Pseudo-Bartter/Gitelman syndrome (p-BS/GS) encompasses a clinically heterogeneous group of inherited or acquired disorders similar to Bartter syndrome (BS) or Gitelman syndrome (GS), both renal salt-losing tubulopathies. Phenotypic overlap frequently occurs between p-BS/GS and BS/GS, which are difficult to diagnose based on their clinical presentation and require genetic tests for accurate diagnosis. In addition, p-BS/GS can occur as a result of other inherited diseases such as cystic fibrosis, autosomal dominant hypocalcemia, Dent disease, or congenital chloride diarrhea (CCD). However, the detection of the variants in genes other than known BS/GS-causing genes by conventional Sanger sequencing requires substantial time and resources. We studied 27 cases clinically diagnosed with BS/GS, but with negative genetic tests for known BS/GS genes. We conducted targeted sequencing for 22 genes including genes responsible for tubulopathies and other inherited diseases manifesting with p-BS/GS symptoms. We detected the SLC26A3 gene variants responsible for CCD in two patients. In Patient 1, we found the SLC26A3 compound heterozygous variants: c.354delC and c.1008insT. In Patient 2, we identified the compound heterozygous variants: c.877G > A, p.(Glu293Lys), and c.1008insT. Our results suggest that a comprehensive genetic screening system using targeted sequencing is useful for the diagnosis of patients with p-BS/GS with alternative genetic origins.

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Matsunoshita N, Nozu K, Yoshikane M, Kawaguchi A, Fujita N, Morisada N et al. Congenital chloride diarrhea needs to be distinguished from Bartter and Gitelman syndrome. Journal of Human Genetics. 2018 Jul 1;63(8):887-892. https://doi.org/10.1038/s10038-018-0470-7