Table 3.
Patients with tubular damage
| Sex | Age at last follow-up/death (years) | Mitochondrial disease diagnosis | Age at first symptom (years) | First symptom | Age at diagnosis (years) | Multisystem involvement | Age at diagnosis of renal impairment (years) | Renal involvement | |
|---|---|---|---|---|---|---|---|---|---|
| 1 | F | 17.2 | DMRCC Complex IV + II limit Mitochondrial DNA depletion |
0.3 | Psychomotor delay Nystagmus |
0.8 | Encephalomyopathy Nystagmus |
17 | Hypercalciuria Ca/Cr ratio: 0.43 mg/mg (N < 0.21) Proteinuria 0.36 mg/mg (N < 0.2) Hypouricemia 1.1 mg/dL (2.8–6) Alkalosis pH 7.48 HCO3 32.8 mmol/L |
| 2 | F | 2 (dead) | POLG mutation Alpers-Huttenlocher syndrome |
2 | Epileptic status | 2 | Encephalomyopathy Short stature Liver disease |
2 | Hypercalciuria Ca/Cr ratio: 1.37 mg/mg (N < 0.21) Proteinuria 0.53 mg/mg (N < 0.2) Hypouricemia 0.9 mg/dL (2–5.1) |
| 3 | F | 13.8 | DMRCC I + II | 0.3 | Psychomotor delay | 4.5 | Encephalomyopathy Epilepsy Dysphagia Diabetes mellitus |
12 | Hypercalciuria Ca/Cr ratio: 0.31 mg/mg (N < 0.21) Hypouricemia 0.7 mg/dL (2.8–6) |
| 4 | M | 11.4 | Mitochondrial DNA depletion | 0.9 | Hypotonia Dystonia | 2.5 | Encephalomyopathy | 11.4 | Hypercalciuria Ca/Cr ratio: 0.3 mg/mg (N < 0.21) Hypouricemia 1.1 mg/dL (2.8–6) |
| 5 | F | 15.8 | DMRCC IV | 0.3 | Epileptic seizure | 1.7 | Encephalomyopathy Epilepsy Early puberty |
10 | Hypercalciuria Ca/Cr ratio: 0.4 mg/mg (N < 0.21) Hypouricemia 1.7 mg/dL (2.8–6) Intermittent proteinuria 0.49 mg/mg (N < 0.21) Nephrocalcinosis |
| 6 | M | 10.1 | Mitochondrial DNA depletion Kearns-Sayre syndrome |
2.6 | Pancreatitis Sepsis-like episode |
8.8 | Motor clumsiness Hearing loss Ptosis and pigmentary retinitis Pancreatitis Short stature Neutropenia |
5.7 | Fanconi syndrome |
| 7 | F | 1 (dead) | DMRCC all | 0.1 | Epileptic seizure | 1 | Early onset myoclonic encephalopathy | 0.2 | Cystinuria (not generalized aminoaciduria) |
| 8 | M | 15 | DMRCC I | 0.3 | Cardiogenic shock Intrauterine growth restriction |
Unknown | Encephalomyopathy Epilepsy Cardiogenic shock Hypocalcemia and hyperphosphatemia |
1.2 | Nephrolitiasis Hyperuricemia 9.6 mg/dL (2.8–7.2) Metabolic alkalosis pH 7.37 HCO3 30.8 mmol/L |
F female, M male, DMRCC deficit in the mitochondrial respiratory chain complex, N normal range, Ca/Cr calcium/creatinine urinary ratio