A case of Pearson syndrome associated with multiple renal cysts

Gürgey, Aytemiz; Ozalp, I; Rötig, Agnès; Coşkun, Teoman; Tekinalp, Gülsevin; Gönüllü, Erdem; Akçören, Zühal; Çağlar, Melda; Bakkaloğlu, Ayşı̇n

doi:10.1007/s004670050178

Cited by 40 publications

(14 citation statements)

References 6 publications

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“…Moreover, large-scale single mtDNA deletions were present in four patients with renal disease (50%), in two patients with mild tubular disease (15%), and in none with any renal disorder, and were invariably associated either with KSS or Pearson disease. Several single-case reports described that patients with KSS [10,17,29,35,36] or Pearson disease [16,37,38] had renal dysfunction. In our study we provide evidence for the frequent association between KSS and Pearson syndrome and renal disease.…”

Section: Discussionmentioning

confidence: 98%

Renal pathology in children with mitochondrial diseases

et al. 2005

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We studied renal involvement in 42 children with mitochondrial diseases (MDs). The diagnosis of MD was established by morphological, biochemical, and molecular genetic criteria. Renal disease was considered when patients had renal failure, nephrotic syndrome, Fanconi's syndrome or any symptomatic renal alteration. Mild tubular disorder was established if they had abnormal laboratory findings with no apparent clinical symptom. Renal involvement was found in 21 children (50%), of whom 8 had an apparent clinical picture and 13 a mild tubular disorder. Five patients with renal disease showed Debré-Toni-Fanconi's syndrome, 2 of them with decreased glomerular filtration rate (GFR). One case had nephrotic syndrome, another one presented decreased GFR, and the last one had a neurogenic bladder and bilateral hydronephrosis. Patients with mild renal disease showed tubular dysfunction with normal GFR. Renal involvement is frequent and present in about half of the children with MD. Thus, studies for evaluating kidney function should be performed on children with MD. Conversely, patients with tubulopathy of unknown origin or progressive renal disease should be investigated for the existence of MD, especially if associated with involvement of other organs or tissues. Southern blot analysis to search for large-scale mitochondrial DNA (mtDNA) rearrangements should be performed for patients with MD and kidney involvement.

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Section: Discussionmentioning

confidence: 98%

Renal pathology in children with mitochondrial diseases

et al. 2005

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“…Cystic renal diseases have been associated with MCs in a number of reports (50,51), mimicking polycystic kidney disease (PCKD). The mechanism of cystic formation remains unknown.…”

Section: Inherited Mcs In Kidney Diseasesmentioning

confidence: 99%

Mitochondrial dysfunction in the pathophysiology of renal diseases

Che

Yuan

Huang

et al. 2014

American Journal of Physiology-Renal Physiology

325

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Mitochondrial dysfunction has gained recognition as a contributing factor in many diseases. The kidney is a kind of organ with high energy demand, rich in mitochondria. As such, mitochondrial dysfunction in the kidney plays a critical role in the pathogenesis of kidney diseases. Despite the recognized importance mitochondria play in the pathogenesis of the diseases, there is limited understanding of various aspects of mitochondrial biology. This review examines the physiology and pathophysiology of mitochondria. It begins by discussing mitochondrial structure, mitochondrial DNA, mitochondrial reactive oxygen species production, mitochondrial dynamics, and mitophagy, before turning to inherited mitochondrial cytopathies in kidneys (inherited or sporadic mitochondrial DNA or nuclear DNA mutations in genes that affect mitochondrial function). Glomerular diseases, tubular defects, and other renal diseases are then discussed. Next, acquired mitochondrial dysfunction in kidney diseases is discussed, emphasizing the role of mitochondrial dysfunction in the pathogenesis of chronic kidney disease and acute kidney injury, as their prevalence is increasing. Finally, it summarizes the possible beneficial effects of mitochondrial-targeted therapeutic agents for treatment of mitochondrial dysfunction-mediated kidney injury-genetic therapies, antioxidants, thiazolidinediones, sirtuins, and resveratrol-as mitochondrial-based drugs may offer potential treatments for renal diseases.

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“…Renal involvement manifested as severe tubular dysfunction (45). In another patient with Pearson syndrome multiple renal cysts were reported (50). In a 1-year-old female with LHON, renal involvement manifested as nephronophthisis, also referred to as TIN (46).…”

Section: Mdsmentioning

confidence: 99%