Primary Hyperoxaluria in an Adult Complicated By ESRD, Resistant Anemia, Skeletal Oxalosis, and Multiple Endocrinopathies: Hypercalcemia, Hypothyroidism, and Hypogonadism
Presentation Number: SAT 299
Date of Presentation: April 1st, 2017
Shatha Murad*1 and Yuval Eisenberg2
1University of Illinois, Chicago, Chicago, IL, 2University of Illinois at Chicago, Chicago, IL
Background: Primary hyperoxaluria I is a rare disorder of oxalate overproduction caused by enzyme deficiencies in metabolism of glyoxylate. 1 It presents with urolithiasis, nephrocalcinosis, CKD and progresses to systemic oxalosis. We present a case of systemic oxalosis leading to nonPTH mediated hypercalcemia, primary hypothyroidism, and primary hypogonadism.
Clinical Case: A 35 year old male with primary hyperoxaluria type I complicated by ESRD, resistant anemia, and skeletal oxalosis is evaluated for weakness, fatigue, low energy, constipation, erectile dysfunction, and testicular sensitivity.
Initial laboratory workup revealed a peak calcium of 13.5 mg/dL (8.6-10.6mg/dL), phosphorous 7 mg/dL (3-4.5mg/dL), 25 (OH) vitamin D 30 ng/mL (20-80 ng/mL) and iPTH of 11 pg/mL (12-88pg/ml), suggesting nonPTH mediated hypercalcemia. 1,25 vitamin D and PTHrP were elevated at 93pg/ml (19.9-79.3pg/ml) and 11 pmol/L(0-2.3 pmol/L), respectively. This was thought to be secondary to excess 1, alpha hydroxylase from bone granulomas or secondary to malignancy. He underwent bone marrow biopsy to evaluate for granulomas, which revealed extensive bone marrow replacement by large crystalline deposits and fibrosis, consistent with history of oxaluria, but did not show evidence of granulomas.
Labs suggested primary hypothyroidism with TSH 8.33 mcIU/mL (0.35-4mcIU/mL), Free T4 0.8 ng/dL (0.6-1.7ng/dL) and thyroid ultrasound showed probable multiple punctate microcalcifications diffusely throughout the thyroid gland, suggestive of infiltration as a cause.
AM Total Testosterones on 2 occasions were 142 and 235 ng/dl (300-1086 ng/dL), FSH 10.8 ng/ml (1.5-14 mIU/ml), LH 9.8 mIU/ml (1.4-7.7mIU/ml). Testicular ultrasound showed bilateral testicles and epididymides with multiple punctate echogenic foci, suggestive of deposition as cause of primary hypogonadism.
Hypogonadism was treated with testosterone 1% gel and hyperthyroidism treated with levothyroxine 175mcg daily. Hypercalcemia improved with daily hemodialysis The patient was listed for sequential kidney and liver transplant.
Conclusion: There are rare reports of hypercalcemia in association with PH, thought to be due to osteoclast-stimulating activity of macrophages in granulomas in bone marrow. Here we describe a case of hypercalcemia without evidence of granuloma in the bone marrow, thought to be due to excess 1, alpha hydroxylase activity in bone granulomas. Primary hypothyroidism and primary hypogonadism are thought to be due to calcium oxalate deposition and this is one of the first reported cases of primary hypogonadism with evidence of deposition in testes. It is important to consider the possibility of and monitor for various endocrinopathies in the setting of primary hyperoxaluria with systemic oxalosis as there are good treatment options that improve quality of life.
Nothing to Disclose: SM, YE