Diffuse mesangial sclerosis in a PDSS2 mutation-induced coenzyme Q10 deficiency

Béla Iványi, Gábor Z. Rácz, Péter Gál, Kitti Brinyiczki, István Bódi, Tibor Kalmár, Zoltán Maróti, Csaba Bereczki

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

Background: A 7-month-old male infant was admitted because he was suffering from nephrotic syndrome, along with encephalomyopathy, hypertrophic cardiomyopathy, clinically suspected deafness and retinitis pigmentosa, and an elevated serum lactate level. Methods: Coenzyme Q 10 supplementation was started because of the clinical suspicion of primary CoQ 10 deficiency. Despite intensive efforts, he passed away 4 weeks after admission. Results: The results of genetic tests, available postmortem, explored two hitherto undescribed mutations in the PDSS2 gene. Both were located within the polyprenyl synthetase domain. Clinical exome sequencing revealed a heterozygous missense mutation in exon 3, and our in-house joint-analysis algorithm detected a heterozygous large 2923-bp deletion that affected the 5 prime end of exon 8. Other causative defects in the CoQ 10 and infantile nephrosis-related genes examined were not found. A postmortem histological, immunohistochemical, and electron microscopic evaluation of the glomeruli revealed collapsing-sclerosing lesions consistent with diffuse mesangial sclerosis. The extrarenal alterations included hypertrophic cardiomyopathy and diffuse alveolar damage. A histological evaluation of the central nervous system and skeletal muscles did not demonstrate any obvious abnormality. Conclusions: Until now, the clinical features and the mutational status of 6 patients with a PDSS2 gene defect have been reported in the English literature. Here, we describe for the first time detailed kidney morphology features in a patient with nephrotic syndrome carrying mutations in the PDSS2 gene.

Original languageEnglish
Pages (from-to)439-446
Number of pages8
JournalPediatric Nephrology
Volume33
Issue number3
DOIs
Publication statusPublished - Mar 1 2018

Keywords

  • CoQ
  • Diffuse mesangial sclerosis
  • Nephrotic
  • PDSS2

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Nephrology

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