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Hypothyroidism in primary hyperoxaluria type 1
Y Frishberg1, S Feinstein, C Rinat
1Division of Pediatric Nephrology, Shaare Zedek Medical Center and Hebrew University, Haddasah Medical School, Jerusalem, Israel.
Insights
Severe hypothyroidism in patients with primary hyperoxaluria type 1 (PH1) and oxalosis may stem from calcium oxalate deposits. Thyroid hormone replacement therapy proved effective, highlighting the need for thyroid monitoring in PH1 patients.
Area of Science:
- Nephrology
- Endocrinology
- Metabolic Disorders
Background:
- Primary hyperoxaluria type 1 (PH1) is a rare genetic disorder leading to excessive oxalate production and deposition.
- End-stage renal disease (ESRD) is a common complication of PH1 due to kidney damage from calcium oxalate crystals.
- Oxalosis, the systemic deposition of calcium oxalate in various tissues, can cause multi-organ dysfunction.
Observation:
- This study reports on four patients with PH1 and ESRD who presented with severe, symptomatic hypothyroidism.
- Patients ranged in age from 3 months to 23 years.
- All patients exhibited diffuse calcium oxalate deposition in kidneys, skeleton, eyes, and heart.
Findings:
- Hypothyroidism in these patients was responsive to thyroid hormone replacement therapy.
- The hypothyroidism is hypothesized to result from thyroid tissue damage caused by extensive calcium oxalate accumulation.
- This suggests a direct link between oxalosis and endocrine dysfunction in PH1.
Implications:
- Thyroid function should be routinely monitored in patients diagnosed with PH1 and oxalosis.
- Early detection and management of hypothyroidism may improve outcomes for PH1 patients.
- Understanding the impact of oxalosis on endocrine organs is crucial for comprehensive patient care.
Abstract:
We describe 4 patients, aged 3 months to 23 years, with end-stage renal disease and severe, symptomatic hypothyroidism. All 4 had primary hyperoxaluria type 1 (PH1) with diffuse tissue (kidneys, skeleton, eyes, heart) calcium-oxalate deposition, a condition known as oxalosis. The hypothyroidism responded to thyroid hormone replacement therapy. Clinical hypothyroidism within the framework of PH1/oxalosis was probably caused by thyroid tissue damage from an abundance of calcium oxalate. We recommend that thyroid function be monitored in patients with PH1 and oxalosis.