Abstract
ObjectiveBartter syndrome (BS) has been rarely reported in Chinese population except for a few case reports. This investigation was aimed to analyze the mutations of the causal genes in sixteen Chinese patients with BS, and review their followup and treatment.MethodsIdentify mutations by the next generation sequencing and the multiplex ligation-dependent probe amplification (MLPA). Clinical characteristics and biochemical findings at the first presentation as well as follow-up were reviewed.Results15 different CLCNKB gene mutations were identified in fourteen patients with BS, including 11 novel ones. A novel missense mutation and a novel small deletion were found from SLC12A1 gene. A novel gross deletion was found in CLCNKA gene. A recurrent missense mutation was identified from BSND gene. We found that the whole gene deletion mutation of CLCNKB gene was the most frequent mutation (32%), and the rate of gross deletion was up to 50 percent in this group of Chinese patients.ConclusionThe present study has found 19 mutations, including 14 novel ones, which would enrich the human gene mutation database (HGMD) and provide valuable references to the genetic counseling and diagnosis of the Chinese population.
Highlights
Bartter syndrome (BS) is a heterogenic autosomal recessive disorder of salt reabsorption at the thick ascending limb (TAL) of the loop of Henle, presenting as hypokalemic metabolic alkalosis with normotensive hyperreninemia and hyperaldosteronism [1,2]
15 different CLCNKB gene mutations were identified in fourteen patients with BS, including 11 novel ones
A recurrent missense mutation was identified from BSND gene
Summary
Bartter syndrome (BS) is a heterogenic autosomal recessive disorder of salt reabsorption at the thick ascending limb (TAL) of the loop of Henle, presenting as hypokalemic metabolic alkalosis with normotensive hyperreninemia and hyperaldosteronism [1,2]. A novel transient form of antenatal BS has been found to be caused by MAGE-D2 mutations [4]. More than 100 Bartter Syndrome-related gene mutations have been reported [2]. This study has recruited the largest group of BS patients in China, identified their mutations of causal genes, analyzed their relationship between genotype and phenotype, as well as reviewed their treatment and follow-up, hoping to explore the mutation spectrum of Chinese patients with BS, and improve the clinician awareness of the disease in China
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