Table 1 Summary of mitochondrial cytopathy syndromes frequently associated with renal phenotypes

Kearns-Sayre Syndrome (KSS)

Progressive external ophthalmoplegia, Retinal Pigmentary degeneration, Progressive myopathy, Cerebellar ataxia, Cardiomyopathy, Heart block

Barter-like syndrome, RTA, Fanconi syndrome, Severe tubulopathy

Single large-scale mtDNA deletions

[1, 6]

Mitochondrial Encephalopathy, Lactic acidosis and Stroke-like

Episodes (MELAS)

Stroke-like episodes (hemiparesis, hemianopia, cortical blindness), Epilepsy, Dementia, Lactic acidaemia, Recurrent headaches, Diabetes, Sensorineural hearing loss, Short stature

FSGS, TIN

Mutations in mtDNA, most commonly m.3243A>G

[2, 7, 8]

Myoclonus Epilepsy and Ragged Red Fibres (MERRF)

Myoclonus, Epilepsy, Cerebellar ataxia, Sensorineural hearing loss, Myopathy, Optic atrophy, Short stature, Dementia

Muscle biopsy – ragged red fibres

FSGS, Chronic TIN, Cystic renal disease (1 case)

Mutations in mtDNA, most commonly m.8344A>G

[2, 9]

Leber Hereditary Optic Neuropathy (LHON)

Visual loss with optic atrophy, Wolff-Parkinson-White syndrome, Multiple sclerosis-like disease

TIN

Mutations in mtDNA, most commonly m.11778G>A, m.3460G>A, m.14484T>C

[6, 10,11,12]

Maternally Inherited Diabetes & Deafness (MIDD)

Sensorineural hearing loss, Diabetes, Macular retinal dystrophy, Myopathy, Short stature, Gastrointestinal disease

FSGS

Point mutations in mtDNA, most commonly m.3243A>G

[13]

Leigh Disease

Developmental delay, Ataxia, Dementia, Dystonia, Seizures, Vomiting, Respiratory failure

Fanconi syndrome

Mutations in mtDNA and nDNA, most commonly involvi\ng complex I genes

[1]

Pearson Syndrome

Severe anaemia, Neutropenia, Sensorineural hearing loss, Thrombocytopenia, Exocrine pancreatic insufficiency

Bone marrow biopsy – ring sideroblasts

Tubulopathy, FSGS, Crescentic GN, Mesangial proliferation

Single large-scale mtDNA deletions

[7]

COQ10 Biosynthesis Defects

Cerebellar Ataxia, Isolated myopathy, Encephalopathy, Myoglobinuria, Sensorineural hearing loss

Nephrotic syndrome (FSGS), Tubulopathy

Mutations in 8 nuclear encoded mitochondrial genes; PDSS1/2, COQ2/4/6/9, ADCK3/4

[2, 14]