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Article

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

Pediatric nephrology (Berlin, Germany) - 1 Mar 2018

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

Abstract excerpt

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 Q10 supplementation was started because of the clinical suspicion of primary CoQ10 deficiency. Despite intensive efforts, he passed away 4 weeks...

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Identifiers

PMID: 29032433
DOI: 10.1007/s00467-017-3814-1

Genes

PDSS2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Diffuse mesangial sclerosis in a PDSS2 mutation-induced coenzyme Q10 deficiency.PMID 29032433Read ↗

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