Balkan Journal of Medical Genetics

EXPANDING THE PHENOTYPIC SPECTRUM: CHRONIC KIDNEY DISEASE IN A PATIENT WITH COMBINED OXIDATIVE PHOSPHORYLATION DEFECT 21
Paripović A, Maver A, Stajić N, Putnik J, Ostojić S, Alimpić B, Ilić N, Sarajlija A
*Corresponding Author: Adrijan Sarajlija MD, PhD, Clinical Genetics Outpatient Clinic, Mother and Child Health Care Institute “Dr Vukan Čupić”, Radoja Dakića 6-8, 11070 Novi Beograd, Serbia; University of Belgrade, Faculty of Medicine, Belgrade, Serbia, email:adrijans2004@yahoo.com
page: 59
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Abstract

Introduction Pathogenic variants in TARS2 are associated with combined oxidative phosphorylation deficiency 21 (COX- PD21), an autosomal recessive disorder usually presenting as mitochondrial encephalomyopathy. Kidney impairment has been documented in a minority of COXPD21 patients, mostly with distal renal tubular acidosis. Case report We report on the first COXPD21 patient with general- ized tubular dysfunction and early childhood progression to chronic kidney disease (CKD). Thorough diagnostic evaluation was initiated at six months of age due to failure to thrive, muscular hypotonia, motor delay and recurrent bronchiolitis. The boy was lost to follow-up until the age of two years, when he was readmitted with elevated cre- atinine level, reduced estimated glomerular filtrate rate, normochromic anaemia, metabolic acidosis and hyperka- laemia. Urine abnormalities pointed to generalized tubular dysfunction. Two novel heterozygous missense variants in TARS2 gene were detected by the means of whole exome sequencing: c.1298T>G (p.Phe438Cys) of maternal origin and c.1931A>T (p.Asp644Val) of paternal origin. Cur-rently, at 4.5 years of age, the boy has failure to thrive, severe motor and verbal delay and end stage of CKD. We referred the patient to paediatric centre that provides renal replacement therapy.

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