Abstract
BackgroundHUPRA syndrome is a rare mitochondrial disease characterized by hyperuricemia, pulmonary hypertension, renal failure in infancy and alkalosis. This syndrome was previously described in three patients with a homozygous mutation c.1169A > G (p.D390G) in SARS2, encoding the mitochondrial seryl-tRNA synthetase.Case presentationHere we report the clinical and genetic findings in a girl and her brother. Both patients were clinically diagnosed with the HUPRA syndrome. Analysis of the pedigree identified a new homozygous mutation c.1205G > A (p.R402H) in SARS2 gene. This mutation is very rare in the population and it is located at the C-terminal globular domain of the homodimeric enzyme very close to p.D390G.ConclusionSeveral data support that p.R402H mutation in SARS2 is a new cause of HUPRA syndrome.
Highlights
HUPRA syndrome is a rare mitochondrial disease characterized by hyperuricemia, pulmonary hypertension, renal failure in infancy and alkalosis
The aminoacid change affects a Conclusions Renal involvement is frequently observed in mitochondrial diseases [4,5], and mitochondrial dysfunction should be considered in the differential diagnosis for unexplained renal disease in infancy [7,13]
We have studied two related infants (sister and brother) who presented failure to thrive, anemia, metabolic hypochloremic alkalosis, pulmonary hypertension and progressive renal failure with hyperuricemia
Summary
HUPRA syndrome is a rare mitochondrial disease characterized by hyperuricemia, pulmonary hypertension, renal failure in infancy and alkalosis. Enzymatic activities of mitochondrial respiratory chain in skeletal muscle were normal (Table 1). Muscle biopsy was performed and histology, histochemistry and enzymatic studies of respiratory chain were normal (Table 1).
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