[Familial benign hypercalcemia revealed by renal colic].
BACKGROUND
Diagnosis of familial benign hypercalcemia can be challenged by the association with a urinary lithiasis, which, in the presence of hypercalcemia, will most frequently lead to affirm primary hyperparathyroidism.


METHODS
We report the case of a 23 year-old patient who presented with a left ureteral stone composed of calcium oxalate. His serum total calcium value was 2.92 mmol/l. Serum PTH value was inappropriately in the normal range (32 ng/l, normal values 10 to 58 ng/l). Hypercalcemia persisted despite a subtotal parathyroidectomy and new investigation biochemical revealed familial benign hypercalcemia.


CONCLUSIONS
This diagnosis is usually made fortuitously, since most patients have few, if any, symptoms. A past familial history of hypercalcemia and several biochemical features (such as a reduced fractional excretion of calcium, mild hypermagnesemia, and a normal serum inorganic phosphorus level) are helpful dues to the diagnosis of familial benign hypercalcemia. In some cases, however, searching for an inactivating mutation of the extracellular calcium-sensing receptor gene is necessary to distinguish this autosomal dominant disease from primary hyperparathyroidism.
Duvic
C
C
Cliníque de Néphrologie et Unité d'Hémodialyse, Hôpital d'Instruction des Armées du Val-de-Grâce. chduvic@aol.com
Hertig
A
A
Védrine
L
L
Hérody
M
M
Sarret
D
D
Nédélec
G
G
D000328:Adult; D002129:Calcium Oxalate; D003085:Colic / Q000209:etiology*; D003937:Diagnosis, Differential; D006801:Humans; D006934:Hypercalcemia / Q000150:complications / Q000175:diagnosis* / Q000235:genetics*; D006961:Hyperparathyroidism / Q000175:diagnosis / Q000601:surgery; D007669:Kidney Calculi / Q000175:diagnosis / Q000209:etiology* / Q000601:surgery; D008297:Male; D016105:Parathyroidectomy
D002129:Calcium Oxalate