Clinical and genetic analysis of distal renal tubular acidosis in three Chinese children

Renal Failure
Jiaojiao LiuHong Xu

Abstract

Primary distal renal tubular acidosis (dRTA) is a rare genetic disease characterized by distal tubular dysfunction leading to metabolic acidosis and alkaline urine. Growth retardation is a major concern in these children. The disease is caused by defects in at least three genes (SLC4A1, ATP6V0A4, and ATP6V1B1) involved in urinary distal acidification. Several series of dRTA patients from different ethnic backgrounds have been genetically studied, but genetic studies regarding Chinese population is rare. Our aim was to investigate the clinical features and genetic basis of primary dRTA in Chinese children. Three unrelated patients with dRTA participated in our study. Next-generation sequencing was performed, and the findings were validated using the Sanger sequencing method. All patients exhibited hyperchloraemic metabolic acidosis, abnormally high urine pH, hypokalemia, and nephrocalcinosis. Growth retardation was observed in all patients. During the follow-up (range 1-4 years), alkali replacement therapy corrected the systemic metabolic acidosis, and two patients demonstrated normal growth. rhGH therapy was administered to patient-3 at the age of 6 years, and his growth rate was significantly improved (growth velocity 9.6 cm/y...Continue Reading

References

May 1, 1990·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·J Rodríguez-Soriano, A Vallo
Jan 1, 1986·American Journal of Nephrology·F Santos, J C Chan
Jun 3, 1999·Biochemistry and Cell Biology = Biochimie Et Biologie Cellulaire·L J BruceM J Tanner
Jul 26, 2002·Journal of the American Society of Nephrology : JASN·Fiona E Karet
Feb 13, 2003·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Rainer RufFriedhelm Hildebrandt
Jan 12, 2007·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Helena GilEliecer Coto
May 30, 2007·American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation·Sookkasem KhositsethPa-Thai Yenchitsomanus
Jun 28, 2008·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Etienne BérardUNKNOWN French Society for Pediatric Nephrology
Feb 18, 2012·The Cochrane Database of Systematic Reviews·Elisabeth M HodsonJonathan C Craig
Apr 21, 2012·Journal of the American Society of Nephrology : JASN·Andrew C FryFiona E Karet Frankl
Feb 12, 2017·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Martine T P BesouwDetlef Bockenhauer

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Methods Mentioned

BETA
blood collection

Software Mentioned

Samtools
Polyphen
phyloP
BclToFastq
PhastCons
PolyP
SIFT
BWA
Mutation Taster

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