Growth hormone deficiency in children with antenatal Bartter syndrome
-
Inna Spector-Cohen
and
Rephael Halevy
Abstract
Background
Bartter syndrome is a group of rare autosomal-recessive renal disorders characterized by hypokalemic hypochloremic metabolic alkalosis associated with severe growth failure; the exact causes for growth retardation are unclear. GH deficiency (GHD) has been reported in a few cases of Bartter syndrome. The aim of our study was to determine the prevalence of GHD in children with antenatal Bartter syndrome and to assess their response to GH therapy.
Methods
Ten patients aged 1.5–14.5 years and diagnosed with antenatal Bartter syndrome were enrolled. Seven children with short stature underwent GH stimulation tests.
Results
Common presenting symptoms were failure to thrive and polyuria. The mean patient height at study entry was −2.7 standard deviation (SD) (range 0.89 to −5.95) and mean weight (SD) was −1.7 (range 1.89 to −4.11). A decline in height and weight (SD) was observed over the years. GHD was diagnosed in four children and GH therapy was started in all of them. Two patients responded very well and gained >1 SD in height, one patient stopped therapy due to non-adherence and one had a poor response.
Conclusions
In addition to other important causes for poor growth in antenatal Bartter syndrome, our findings suggest that GHD should also be considered as a cause of growth retardation and therefore, clinical assessment of the GH axis is recommended. GH therapy has a role in the treatment of growth failure in some individuals with Bartter syndrome.
Acknowledgments
We are grateful to the Pediatric Endocrine Team for fruitful collaboration. We thank Camille Vainstein for professional language editing and Naama Schwartz for the statistical analysis. Thanks to the patients and their families for participating in the study.
Author contributions: All the authors have accepted responsibility for the entire content of this submitted article and approved submission.
Research funding: This study was supported by a grant from the Academic Committee of Ha’Emek Medical Center.
Employment or leadership: None declared.
Honorarium: None declared.
Competing of interest: The funding organization played no role in the study design, in the collection, analysis or interpretation of data, in the writing of the report, or in the decision to submit the report for publication.
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©2019 Walter de Gruyter GmbH, Berlin/Boston
Articles in the same Issue
- Frontmatter
- Original Articles
- Improved adherence and growth outcomes with jet-delivered growth hormone
- Validation of the Greek version of the Quality of Life in Short Stature Youth (QoLISSY) questionnaire
- Growth hormone deficiency in children with antenatal Bartter syndrome
- Physical growth and development characteristics of children with Williams syndrome aged 0–24 months in Zhejiang Province
- Adiposity and adipocytokines: the moderator role of cardiorespiratory fitness and pubertal stage in girls
- Serum omentin-1 levels in obese children
- A pilot study on newborn screening for congenital adrenal hyperplasia in Beijing
- Typical characteristics of children with congenital adrenal hyperplasia due to 11β-hydroxylase deficiency: a single-centre experience and review of the literature
- Studying the effect of large neutral amino acid supplements on oxidative stress in phenylketonuric patients
- The effect of therapy on plasma ghrelin and leptin levels, and appetite in children with iron deficiency anemia
- The effect of PKU diet on the maternal quality of life and social discrimination in relation to their educational status and place of living
- Evaluating the four most important salivary sex steroids during male puberty: testosterone best characterizes pubertal development
- Case Reports
- Identification of two novel TPK1 gene mutations in a Chinese patient with thiamine pyrophosphokinase deficiency undergoing whole exome sequencing
- A rare case of congenital hyperinsulinism (CHI) due to dual genetic aetiology involving HNF4A and ABCC8
- Cinacalcet therapy in an infant with an R185Q calcium-sensing receptor mutation causing hyperparathyroidism: a case report and review of the literature
Articles in the same Issue
- Frontmatter
- Original Articles
- Improved adherence and growth outcomes with jet-delivered growth hormone
- Validation of the Greek version of the Quality of Life in Short Stature Youth (QoLISSY) questionnaire
- Growth hormone deficiency in children with antenatal Bartter syndrome
- Physical growth and development characteristics of children with Williams syndrome aged 0–24 months in Zhejiang Province
- Adiposity and adipocytokines: the moderator role of cardiorespiratory fitness and pubertal stage in girls
- Serum omentin-1 levels in obese children
- A pilot study on newborn screening for congenital adrenal hyperplasia in Beijing
- Typical characteristics of children with congenital adrenal hyperplasia due to 11β-hydroxylase deficiency: a single-centre experience and review of the literature
- Studying the effect of large neutral amino acid supplements on oxidative stress in phenylketonuric patients
- The effect of therapy on plasma ghrelin and leptin levels, and appetite in children with iron deficiency anemia
- The effect of PKU diet on the maternal quality of life and social discrimination in relation to their educational status and place of living
- Evaluating the four most important salivary sex steroids during male puberty: testosterone best characterizes pubertal development
- Case Reports
- Identification of two novel TPK1 gene mutations in a Chinese patient with thiamine pyrophosphokinase deficiency undergoing whole exome sequencing
- A rare case of congenital hyperinsulinism (CHI) due to dual genetic aetiology involving HNF4A and ABCC8
- Cinacalcet therapy in an infant with an R185Q calcium-sensing receptor mutation causing hyperparathyroidism: a case report and review of the literature
