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Atypical phenotype of type I Bartter syndrome accompanied by focal segmental glomerulosclerosis

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Abstract

Type I Bartter syndrome (BS) is caused by mutations of the Na-K-2Cl cotransporter (NKCC2)-encoding SLC12A1 gene. The clinical phenotype of this severe form of BS is characterized by polyhydramnios, premature delivery, failure to thrive, and nephrocalcinosis, and the diagnosis is usually made during the antenatal–neonatal period. This report concerns a 29-year-old Japanese man with atypical type I BS due to a compound heterozygous mutation of the SLC12A1 gene. He was born after full-term pregnancy complicated by polyhydramnios. He first presented with asymptomatic proteinuria at the age of 20 years and was diagnosed with BS based on laboratory data. There were signs of moderate proteinuria, mild renal dysfunction and nephrocalcinosis. Renal biopsy showed focal segmental glomerulosclerosis (FSGS), and genetic testing revealed novel mutations of A555V and G809V in the SLC12A1 gene. The patient’s sister showed the same clinical course, laboratory test abnormalities and gene mutations. Our patient had a type I BS with an atypical clinical course, which was diagnosed when he was 20 years old. Laboratory findings indicated phenotypic variability in this disease, and the presence of nephropathy suggested that FSGS might be one of the lesions causing end-stage renal failure in this disease

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Acknowledgment

This work was supported by grants from the Ministry of Education, Culture, Sports, Science and Technology of Japan (19790720).

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Authors and Affiliations

  1. Department of Medicine, Nagaoka Red Cross Hospital, Nagaoka, Japan

    Hajime Yamazaki

  2. Department of Pediatrics, Kobe University Graduate School of Medicine, Kusunokicho 7-5-1, Chuo, Kobe, 650-0017, Hyogo, Japan

    Kandai Nozu, Yoshimi Nozu, Xue Jun Fu, Masafumi Matsuo & Kazumoto Iijima

  3. Division of Clinical Nephrology and Rheumatology, Niigata University, Niigata, Japan

    Ichiei Narita & Fumitake Gejyo

  4. Department of Molecular Pathology, Comprehensive Human Sciences, University of Tsukuba, Tsukuba, Japan

    Michio Nagata

Authors
  1. Hajime Yamazaki
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  2. Kandai Nozu
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  3. Ichiei Narita
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  4. Michio Nagata
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  5. Yoshimi Nozu
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  6. Xue Jun Fu
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  7. Masafumi Matsuo
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  8. Kazumoto Iijima
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  9. Fumitake Gejyo
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Correspondence to Kandai Nozu.

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Yamazaki, H., Nozu, K., Narita, I. et al. Atypical phenotype of type I Bartter syndrome accompanied by focal segmental glomerulosclerosis. Pediatr Nephrol 24, 415–418 (2009). https://doi.org/10.1007/s00467-008-0999-3

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  • DOI: https://doi.org/10.1007/s00467-008-0999-3

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