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Hypomagnesaemia-hypercalciuria-nephrocalcinosis: a report of nine cases and a review Benigno V; Canonica CS; Bettinelli A; von Vigier RO; Truttmann AC; Bianchetti MGNephrol Dial Transplant 2000[May]; 15 (5): 605-10BACKGROUND: The cardinal characteristics of primary hypomagnesaemia-hypercalciuria-nephrocalcinosis include renal magnesium wasting, marked hypercalciuria, renal stones, nephrocalcinosis, a tendency towards chronic renal insufficiency and sometimes even ocular abnormalities or hearing impairment. METHODS: As very few patients with this syndrome have been described, we provide information on nine patients on follow-up at our institutions and review the 42 cases reported in the literature (33 females and 18 males). RESULTS: Urinary tract infections, polyuria-polydipsia, renal stones and tetanic convulsions were the main clinical findings at diagnosis. The clinical course was highly variable; renal failure was often reported. The concomitant occurrence of ocular involvement or hearing impairment was reported in a large subset of patients. Parental consanguinity was noted in some families. CONCLUSIONS: The results indicate an autosomal recessive inheritance. The diagnosis of primary hypomagnesaemia-hypercalciuria-nephrocalcinosis deserves consideration in any patient with nephrocalcinosis and hypercalciuria.|Adolescent[MESH]|Adult[MESH]|Calcium/*blood[MESH]|Child[MESH]|Eye Diseases/complications[MESH]|Female[MESH]|Hearing Disorders/complications[MESH]|Humans[MESH]|Kidney Diseases/complications[MESH]|Magnesium/*blood[MESH]|Male[MESH]|Nephrocalcinosis/*complications[MESH]|Seizures/complications[MESH]|Syndrome[MESH]|Urologic Diseases/complications[MESH] |
