A novel mutation in the calcium-sensing receptor gene in an Irish pedigree showing familial hypocalciuric hypercalcemia: a case report

Table 1 Clinical chemistry and mutations

Ca²⁺		P	F^excCa²⁺	Creatinine clearance	PTH	*CaSR* A213E mutation
2.0-2.6
Normal values and units	mmol/L Corrected for albumin	0.8-1.5 mmol/L		ml/'	10-55 ng/L	Absent
Proband 2001	3.35	0.67		44
Proband 2004	3.03	0.90	0.0035	48	140	Present
Son 1	2.98	0.86	0.0084	80.8	20	Present
Son 2	2.91	0.73	0.0044	97.8	68	Present
Son 3	2.40	0.93	0.0094	90.2	38	Absent

Serum calcium, phosphate, fraction of excreted calcium (calcium clearance/creatinine clearance ratio), creatinine clearance, PTH, and the presence or absence of the mutation.

ISSN: 1752-1947