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- Title
Recurrent kidney stones in a family with a mitochondrial disorder due to the m.3243A>G mutation.
- Authors
Bargagli, M.; Primiano, G.; Primiano, A.; Gervasoni, J.; Naticchia, A.; Servidei, S.; Gambaro, G.; Ferraro, P. M.
- Abstract
He also had high-normal 24-h urine calcium (6.45 mmol/d), hypocitraturia (0.64 mmol/d), low levels of urine ammonium (11.6 mmol/d), and serum PTH (12 ng/L) and 25(OH) vitamin D serum levels in the normal range (103.3 nmol/L). At the 6-month follow-up, 24-h urine collection showed persistently high-normal 24-h urine calcium (6.18 mmol/d), but the patient did not appear to have complied with the dietary recommendations. Both sons had hypercalciuria with normal 25(OH) vitamin D, low PTH, high salt intake and low urine volume, suggesting a dietary etiology for some of their metabolic risk factors. The proband was taking teriparatide (the fully active but truncated amino-terminal fragment of PTH (1-34) [[9]]) for osteoporosis, and this therapy alone may induce hypercalciuria [[10]].
- Subjects
MELAS syndrome; KIDNEY stones; MITOCHONDRIAL pathology; GENETIC disorders; ENDOCRINE diseases; FOCAL segmental glomerulosclerosis
- Publication
Urolithiasis, 2019, Vol 47, Issue 5, p489
- ISSN
2194-7228
- Publication type
Letter
- DOI
10.1007/s00240-018-1087-1