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01.12.2013 | Case report | Ausgabe 1/2013 Open Access

Journal of Medical Case Reports 1/2013

Classic Bartter syndrome complicated with profound growth hormone deficiency: a case report

Zeitschrift:
Journal of Medical Case Reports > Ausgabe 1/2013
Autoren:
Masanori Adachi, Toshihiro Tajima, Koji Muroya, Yumi Asakura
Wichtige Hinweise

Electronic supplementary material

The online version of this article (doi:10.​1186/​1752-1947-7-283) contains supplementary material, which is available to authorized users.

Competing interests

The authors declare that they have no competing interests.

Authors’ contributions

MA treated our patient from the beginning, performed the CLCNKB gene analysis and evaluated the GH status of our patient. MA also wrote the manuscript. TT and KM planned and performed the CLCNKB gene analysis. YA and KM critically reviewed and revised the manuscript. All authors read and approved the final manuscript.

Abstract

Introduction

Classic Bartter syndrome is a salt-wasting tubulopathy caused by mutations in the CLCNKB (chloride channel Kb) gene. Although growth hormone deficiency has been suggested as a cause for persistent growth failure in patients with classic Bartter syndrome, in our opinion the diagnoses of growth hormone deficiency has been unconvincing in some reports. Moreover, Gitelman syndrome seems to have been confused with Bartter syndrome in some cases in the literature. In the present work, we describe a new case with CLCNKB gene mutations and review the reported cases of classic Bartter syndrome associated with growth hormone deficiency.

Case presentation

Our patient was a Japanese boy diagnosed as having classic Bartter syndrome at eight months of age. The diagnosis of Bartter syndrome was confirmed by CLCNKB gene analysis, which revealed compound heterozygous mutations with deletion of exons 1 to 3 (derived from his mother) and ΔL130 (derived from his father). His medical therapy consisted of potassium (K), sodium chloride, spironolactone, and anti-inflammatory agents; this regime was started at eight months of age. Our patient was very short (131.1cm, -4.9 standard deviation) at 14.3 years and showed profoundly impaired growth hormone responses to pharmacological stimulants: 0.15μg/L to insulin-induced hypoglycemia and 0.39μg/L to arginine. His growth response to growth hormone therapy was excellent.

Conclusions

The present case strengthens the association between classic Bartter syndrome and growth hormone deficiency. We propose that growth hormone status should be considered while treating children with classic Bartter syndrome.

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