Physical Examination and Work-up
Upon physical examination, the child is thin and mildly ill-appearing. His temperature is 98.6°F (37°C); his pulse has a regular rhythm, with a rate of 80 beats/min; and his blood pressure is 120/70 mm Hg. The patient's respirations are regular and unlabored at 14 breaths/min.
The child is in mild distress secondary to his epigastric discomfort. The examination of the head and neck is normal, except that the oropharynx appears slightly dry. He has no dysmorphic facial features. His lungs are clear to auscultation, and normal respiratory effort is noted. The S1 and S2 heart sounds are normal, and no murmurs are detected. The abdomen is soft but tender to deep palpation in the epigastric region. The patient's extremities show no edema, and brisk capillary refill is noted. His skin is clear except in the gluteal region, where a nodular eczematous lesion is present (Figure 1).
Routine laboratory tests reveal a normal complete blood count and normal values for sodium, potassium, chloride, bicarbonate, and magnesium. The patient's blood urea nitrogen and serum creatinine values are elevated (22.4 mg/dL and 1.8 mg/dL, respectively). The calcium level is elevated at 14.4 mg/dL, which is confirmed with an ionized calcium level of 7.2 mg/dL. The phosphorus level is low, at 5 mg/dL. Hepatic aminotransferase values are slightly elevated (aspartate aminotransferase, 61 U/L; alanine aminotransferase, 201 U/L) and the bilirubin level is 0.7 mg/dL. A chest radiograph (Figure 2) is obtained.
The patient is hospitalized. During the hospital course, additional laboratory tests are performed. The thyroid hormone levels are in the normal range, but the parathyroid hormone level is low, at 10.91 pg/mL (normal range, 15-65 pg/mL). Vitamin D metabolites are not measured. The serum angiotensin-converting enzyme (ACE) level is normal, at 32.7 U/L (normal range, 12-42 U/L). The results of a purified protein derivative test are negative.
Urinalysis performed on several occasions shows a specific gravity of 1.003 and a pH of 5, with normal urinary sediment. Urinary culture findings are negative. On several occasions, marked hypercalciuria is observed, with a calcium level of 14 mg/kg and a urinary calcium/creatinine ratio (mmol/mmol) that ranges from 2.5 to 3.5. No glycosuria or aminoaciduria is noted.
Ultrasonography is performed, on which the parathyroid glands appear normal. Renal ultrasonography confirms mild nephrocalcinosis around the renal calices. A renal biopsy is performed. The specimen exhibits tubulointerstitial nephritis associated with tubular calcium deposits (Figure 3).
Other findings include interstitial infiltration by mononuclear cells, interstitial fibrosis, tubular necrosis, and atrophy. Dystrophic calcifications are present in some of the tubules.
Negative results are obtained for immunoglobulin (Ig) A, IgG, IgM, and C3 on immunofluorescence analysis. Immunohistochemical analysis reveals inflammatory cellular substrate CD68, macrophages, and lymphoid population. No glomerular abnormalities are evident.
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