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

INTRODUCTION

Pathogenic variants in TARS2 are associated with combined oxidative phosphorylation deficiency 21 (COX- PD21), an autosomal recessive disorder most commonly presenting as mitochondrial encephalomyopathy (MIM# 615918) (1). The TARS2 gene (MIM# 612805) encodes mitochondrial threonyl tRNA-synthetase. To the best of our knowledge, less than 30 patients of this particular mi- tochondrial disorder have been reported on to date (2,3). The main clinical features of COXPD21 include failure to thrive/growth retardation, developmental delay, axial hypotonia, hypertonus of the limbs, dystonia, seizures, and laboratory findings of lactic acidosis and elevated plasma alanine (1-4). Various pathological brain MRI findings have also been reported, such as high signal lesions in the basal ganglia and thalami, white matter volume loss, cortical atrophy, midbrain, and cerebellar atrophy (2,4,5). Metabolic crises are considered as potentially devastating aspects of COXPD21 (1). Early mortality was predomi- nantly observed in children harbouring biallelic null muta- tions in the TARS2 (3). The prevalence of renal involvement in patients with primary mitochondrial disorders has been estimated to range from 25% to 50% (6). The most common renal phenotype in these patients is proximal tubulopathy with or without complete Fanconi syndrome, but a spectrum of manifestations has been described as well, including chronic kidney disease (CKD), distal tubular defects, focal segmental glomerulosclerosis, steroid resistant nephrotic syndrome, renal cysts, nephrocalcinosis and others (6- 8). However, kidney impairment has been documented in only seven COXPD21 patients, presenting with distal renal tubular acidosis (2,4). A progress into chronic kid- ney disease (CKD) occurred in one patient at 17 years of age (4). Herein, we report the first COXPD21 patient with generalized tubular dysfunction and early childhood progression to CKD.

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