Clinical_Rounds_in_Endocrinology_Volume_II_-_Pediatric_Endocrinology

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(N < 34). Antinuclear antibody was present (speckled pattern, 3+) and celiac
serology (IgA tTG) was negative. Ultrasonography of the neck and sestamibi
parathyroid scan was noncontributory. Ultrasound abdomen showed bilateral
small kidneys. X-ray of spine and pelvis showed osteopenia and fracture neck of
the left femur, respectively. X-ray of chest revealed pseudo-fracture at the outer
border of scapula. 99mTc MDP bone scan revealed increased uptake in sternum,
mandible, ribs, and long bones suggestive of metabolic bone disease. Schirmer’s
test was positive and lip biopsy was consistent with Sjogren’s syndrome. With
this profile, Sjogren’s syndrome with distal renal tubular acidosis (RTA) and
primary hypothyroidism due to Hashimoto’s thyroiditis were considered, and the
patient was initiated on sodium bicarbonate, potassium chloride, and calcium
carbonate tablets. In addition, she was also started with L-thyroxine. With this
treatment, her bone pain resolved, proximal myopathy improved, and she was
able to walk with support. Repeat blood gas analysis showed pH 7.4, HCO 3
20 mEq/L, and serum K+ 4.2 mEq/L. Later, calcitriol was added due to declining
eGFR. She is planned for renal biopsy for the initiation of immunosuppressive
therapy as she had proteinuria and declining eGFR (Fig. 5.1).


5 Rickets–Osteomalacia
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