Table 3.

 Clinical, biochemical and genetic findings in eight reported cases of maternal hypercalcaemia due to CYP24A1 pathogenic variants.

Case Report	Molin 2015 (16)	Dinour 2015 (20)	Shah 2015 (11)	Woods 2016 (23)	Hedberg 2019 (24)		McBride 2019 (21, 22)	MacDonald 2019 (25)
Genotype	Compound heterozygous	Homozygous	Compound heterozygous	Homozygous	Compound heterozygous	Homozygous	Compound heterozygous	Homozygous
Mutation	p.E322A/p.L409S	p.E143del	p.E143del/p.R396W	p.S334Vf*9	p.R396W/p.L148P	p.R396W	p.E143del/p.K351Nfs*21	p.E143del
Age/years	NS	35	28	20	23	21	27	Mid 20s
Gestation week/PP	32	32	14	1–5 days PP	38	15	5–7 days PP	13
Ethnicity	NS	Moroccan	NS	Mexican	Swedish		Caucasian	NS
PMHx	NS	Renal stones	Renal stones	Hypertension	Renal stones		Renal stones	Renal calculus
Medullary nephrocalcinosis	NS	Yes	Yes	NS	Yes	Yes	Yes	NS
Symptoms	NS	Weakness and confusion	Fatigue and constipation	Altered mental status and acute pancreatitis	Epigastric pain and HTN	PP Headache Nausea and HTN	Symptomatic hypercalcaemia	Symptomatic hypercalcaemia
Calcium (mmol/L)	3.3	3.00 to 3.68	2.38 to 3.05	3.50	4.29	2.87	3.63	2.90
PTH (ng/L)	Suppressed	<3	<3	<6	5	<10	5.6	6.6
25(OH)D (nmol/L)	NS	70	159–185a	113–133	98	267	77	116
1,25(OH)2D (pmol/L)	441	214	422–509	396–468	187	386	250	380
24,25(OH)2D (nmol/L)	NS	NS	1.85a	Not detected	NS	NS	NS	0.1
25(OH)D: 24,25(OH)2D ratio	NS	NS	86a	NS	NS	NS	NS	594
Ur calcium:creatinine ratio	NS	NS	NS	NS	NS	NS	0.22	2.09
24-h Ur calcium (mmol/day)	NS	10.53	9.43	6.91	15.5	5.7	NS	NS
Vitamin D supplements	NS	750 IU/day	NS	Yes	NS	NS	250 IU/day	50,000 IU/month
Medication/over the counter	NS	Calcium bicarbonate	Prenatal vitamin	Amlodipine	Citalopram	NS	NS	NS

^aValues used to derive 25(OH)D to 24,25(OH)₂D ratio.

HTN: hypertension; NS: not stated; PP: post-partum.