PMC8518617_01
Laboratory parameters and calcium-affecting treatments over the first 150 respectively 240 days in Patient 1 Panel (A) and Patient 2 Panel (B). Vitamin D3 was provided orally/once daily. Cinalcacet was started in patient 2 on day 26 of life at 20 mg/m2 body surface (5mg) daily and increased on day 137 of life based on increased body weight and elevated calcium levels (to 6mg). Age-appropriate normative range is indicated by the grey bar for calcium, PTH and total serum alkaline phosphate (TSAP) levels; Red arrow: estimated date of delivery.
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Urinary calcium was undetectable when first measured on day 21 of life ( Figure 1B ). The patient's overall clinical condition gradually improved. ( Figure 1B ). There is no evidence for nephrocalcinosis ( Figure 1B ).
Radiographs (Patient 2) at 3 weeks of life: Images of the skull (A, B) show blurred borders at the cortical/medullar bones and wide sutures with occipital intrasutural bones (Wormian bones). Poor mineralization is present in the skeleton as seen on the thoracoabdominal radiograph (C) arms and legs. Multiple metaphyseal fractures are present in both arms, with malalignments of the radius and ulna (E-H). Distal fractures of the right tibia and fibula are present (D), with internally rotated position and, to a lesser extent, likewise on the left. Fractures on the left side are close to consolidation, indicating intra uterine onset of fractures.
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Skeletal survey showed a generalized decrease in bone density with poor mineralization of the entriegeln skeleton, and at the skull wide sutures and a wormian bone was noted. ( Figure 2 ).