Parathyroidectomy for tertiary hyperparathyroidism associated with X-linked dominant hypophosphatemic rickets.

Abstract

BACKGROUND:

X-linked dominant hypophosphatemic rickets (XLHR) is a hereditary metabolic bone syndrome that is only beginning to be understood and is rarely associated with progression to irreversible tertiary hyperparathyroidism. We report our surgical experience with 6 patients with XLHR who underwent parathyroidectomy for associated autonomous parathyroid hyperfunction.

HYPOTHESIS:

Parathyroidectomy can successfully treat tertiary hyperparathyroidism in the setting of XLHR, although an understanding of expected operative findings and postoperative complications is essential.

DESIGN:

The study group comprised 6 patients with XLHR identified from our endocrine surgery database. Presentation, surgical procedure, parathyroid pathologic findings, and subsequent outcome are outlined.

RESULTS:

There were 4 women and 2 men. All were exposed to long-term vitamin D and phosphate supplementation therapy. All had persistently elevated preoperative levels of parathyroid hormone and serum calcium. The patients were treated as follows: 3 had total parathyroidectomy, 2 had 3 parathyroid glands identified and resected, and 1 had 2 abnormal parathyroid glands resected with 2 normal-appearing parathyroid glands left in situ. One patient subsequently required completion parathyroidectomy for recurrent disease. Pathologic examination results revealed hyperplasia of all resected parathyroid glands in 4 of 6 patients. One patient had a single adenoma with 3-gland hyperplasia, and 1 patient had a double adenoma. The principal complication of this procedure was profound symptomatic hypocalcemia requiring intravenous calcium infusion. Hungry bone syndrome was also observed in most subjects. Long-term, all patients achieved normocalcemia.

CONCLUSION:

Tertiary hyperparathyroidism is a rare but recognized complication of XLHR. Parathyroidectomy effectively treats this complication caused by autonomous parathyroid hyperfunction, but profound postoperative hypocalcemia necessitates careful management.

• Authors: Robert M Savio, Jessica E Gosnell, Solomon Posen, Thomas S Reeve, Leigh W Delbridge
• Journal: Archives of surgery (Chicago, Ill. : 1960) (Arch Surg) Vol. 139 Issue 2 Pg. 218-22 (Feb 2004) ISSN: 0004-0010 [Print] United States
• PMID: 14769584 (Publication Type: Comparative Study, Journal Article)

Topics

• Adult
• Female
• Humans
• Hyperparathyroidism, Secondary (diagnosis, etiology, surgery)
• Hypophosphatemia, Familial (complications, diagnosis)
• Male
• Middle Aged
• Parathyroidectomy (methods)
• Postoperative Care
• Prognosis
• Retrospective Studies
• Risk Assessment
• Sampling Studies
• Severity of Illness Index
• Treatment Outcome