SynthesisBMC nephrology2026
A young male with kidney damage from genetic mitochondrial disease: case report and literature review.
Synthesis in BMC nephrology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
0 citing papers in PubMed.
No citing paper in PubMed yet.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors.
Funding
Abstract
backgroundThe most familiar ear and kidney syndrome is Alport syndrome for a nephrologist. Mutations in the mitochondrial gene MT-TL1, which encodes UUR, can also cause renal dysfunction and hearing loss. In this study, we reported a young Chinese male presented with proteinuria and renal dysfunction with a morphological presentation of focal segmental glomerulosclerosis (FSGS) with m.3243 A > G mutation in the mitochondria in the mitochondrial gene MT-TL1. We conducted a systematic literature review to summarize previously reported cases. CASE PRESENTATION: A 17-year-old male was admitted to our hospital due to foamy urine that had persisted for three months after an upper respiratory tract infection. He also complained of weakness in both lower extremities, particularly the calves. He had progressive hearing loss and body hair growth in the last two years.His urinalysis revealed 2 + proteinuria and 24-hour urine protein of 0.85 g.His blood tests revealed increased serum creatinine of 2.1 mg/dl, blood urea nitrogen of 36.1 mg/dl, and uric acid of 12.5 mg/dl. His fasting blood glucose was within the normal range of 99 mg/dl. Renal biopsy pathology revealed changes consistent with FSGS.High-power microscopy demonstrated swollen podocytes and an increased number of dysmorphic mitochondria within renal tubular epithelial cells. Consequently, whole-exome sequencing was performed, confirming that both the patient and her mother harbor the m.3243 A > G mutation in the mitochondrial MT-TL1gene.We provide patients with treatments to improve mitochondrial energy synthesis, reduce creatinine production, promote creatinine excretion, and lower uric acid levels.After a 23-month follow-up, renal function remained stable.
conclusionThe UUR gene is an important tRNA gene in mtDNA. Its mutation can lead to mitochondrial dysfunction and cause a variety of diseases.The family history of patients with concurrent ear and renal diseases should be assessed in detail.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.