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A Case of Antenatal Bartter Syndrome with Sensorineural Deafness
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Hyun Seung Lee
Published/Copyright:
October 1, 2010
ABSTRACT
Bartter syndrome type IV, also known as Bartter syndrome with sensorineural deafness (BSND), is caused by loss-of-function mutations in the BSND gene, which encodes barttin, an accessory subunit of chloride channels located in the kidney and inner ear. Patients with BS IV have a highly variable clinical phenotype. This report concerns a Korean male patient with antenatal Bartter syndrome due to a homozygous BSND p.G47R mutation, who presented with severe perinatal symptoms followed by a relatively benign course with preserved renal function after early infancy. In addition, the clinical features and the laboratory data of the patient were compared with those of previously reported patients with the same mutation.
KEY WORDS: Bartter syndrome type IV; Bartter syndrome with sensorineural deafness; BSND gene; Barttin; p.G47R mutation
Published Online: 2010-October
Published in Print: 2010-October
© Freund Publishing House Ltd.
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Keywords for this article
Bartter syndrome type IV;
Bartter syndrome with sensorineural deafness;
BSND gene;
Barttin;
p.G47R mutation
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- Diabetes Insipidus in a Young Child
- Evaluation and Follow-up of Clinically Euthyroid Children with Normal Free T4 and Suppressed TSH
- Bicalutamide plus Anastrozole for the Treatment of Gonadotropin-Independent Precocious Puberty in Boys with Testotoxicosis: A Phase II, Open-Label Pilot Study (BATT)
- Endocannabinoid (EC) Receptor, CB1, and EC Enzymes' Expression in Primary Adipocyte Cultures of Lean and Obese Pre-pubertal Children in Relation to Adiponectin and Insulin
- The Relationship of Insulin Secretion and GAD65 Antibody Levels at Diagnosis on Glycemic Control in Type 2 Diabetes
- Morning Cortisol is Not Associated with Truncal Fatness or Resting Blood Pressure in Children: Cross-Sectional and 1-2 Year Follow-Up Analyses
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