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Page 40
Volume 5
Journal of Pediatric Care
ISSN: 2471-805X
JOINT EVENT
Neonatology 2019
Pediatrics Surgery 2019
April 23-24, 2019
April 23-24, 2019 London, UK
&
23
rd
Edition of International Conference on
Neonatology and Perinatology
4
th
International Conference on
Pediatrics and Pediatric Surgery
The case Bartter Syndrome with novel mutation in CLCNKB gene
Bilal Haider Shamsi and Liu Yong Lin
Xi’an Medical University, China
T
he female child of Chinese origin was born of a non-consanguineous marriage, SVD, premature with the birth
weight of 1450 g, as the elder amongst the twins of test-tube pregnancy to a G1P2 mother at 29+4 weeks of
gestation. The Apgar score was 9 at 1
st
min and 10 at 5
th
min. At the age of 8-months the child who had already been
treated indoor, three times before, for repeated infections and malnutrition, presented to the hospital for 10 days of
anorexia. The child appeared severely malnourished weighing 5 kg only. She had low urine specific gravity <1.005),
metabolic alkalosis (serum bicarbonate 29 mmol/l, pH 7.67, BE=9 mmol/L), hyponatremia (Na 136.9 mmol/L),
hypocalcemia (Ca 1.44 mmol/L), hypokalemia (2.96 mmol/ L), and hypochloremia (CL 86.50 mmol/L). With the
above-mentioned findings, she was clinically diagnosed as BS type III. The polymerase chain reaction (PCR) for
amplifying DNA sequences and direct sequencing of all the exons of CLCKB gene was performed using peripheral
blood genomic DNA. All the primers were designed according to the sequence of NG_013079.1. The sample was
analyzed for CLCNKB gene showed homozygous mutation: c.655+2 T>A (coding region 655+2 nucleotide thymine
to adenine), resulting in amino acid splicing mutation. The present study has found a novel mutation, including
one already reported SNP, which would enrich the human gene mutation database (HGMD) and provide valuable
references to the genetic counseling and diagnosis.
drhydi@outlook.comJ Pediatr Care 2019, Volume 5
DOI: 10.21767/2471-805X-C1-021