. Author manuscript; available in PMC: 2022 May 1.

Published in final edited form as: J Bone Miner Res. 2021 Feb 18;36(5):942–955. doi: 10.1002/jbmr.4254

Table 3.

Overview of Clinical Data Including Sex, Age, GACI Status, History of Symptoms, Mutation Status, Fractures, and Treatment Information (Hamburg Patient)

Parameter	Patient Hamburg
Sex/Age	M/16 yr
Height/Z-score	144.6 cm/−3.5
History of GACI	No
Age at diagnosis of rickets	~2.5 yr
Age at initial presentation	14 yr
Age at ARHR2 diagnosis	14.5 yr
ENPP1 mutation status	Homozygous
DNA level/protein level	c.755A > G/p.Tyr252Cys
Childhood fractures	None
Vertebral/nonvertebral fractures	2^a/4^a
Vitamin D suppl. (IU/d/age at start)	2000–3000/14 yr
Phosphate suppl. (mg/d/age at start)	1220–1830/14.5 yr
Calcitriol suppl. (μg/d/age at start)	0.5/14.5 yr

GACI = generalized arterial calcification of infancy; M = male; yr = years; ARHR2 = autosomal recessive hypophosphatemic rickets; ENPP1 = ecto-nucleotide pyrophosphatase/phosphodiesterase-1; suppl. = supplementation.

Traumatic fracture.