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Purpose <p>To characterize the clinical and genetic features of Chinese FHH type 1 (FHH1) patients and evaluate biochemical discriminators between FHH1 and sporadic primary hyperparathyroidism (s-PHPT).</p> Methods <p>This retrospective study included 11 genetically confirmed FHH1 and 55&#xa0;s-PHPT patients. Their clinical, biochemical, and imaging data were compared. Genetic testing was conducted via targeted next-generation or whole-exome sequencing. The key discriminators were assessed by receiver operating characteristic (ROC) analysis.</p> Results <p>Among the 11 FHH1 patients, 63.6% were females and 63.6% had a family history. Incidentally detected hypercalcemia was the most common cause (72.7%). Compared with s-PHPT, FHH1 were younger at diagnosis [38.1 ± 17.4 years vs. 53.6 ± 14.0, <i>P</i> = 0.002], had lower parathyroid hormone level [41.80 (28.89, 124.00) pg/mL vs. 233.90 (136.6, 521.6) pg/mL, <i>P</i> &lt; 0.001], higher serum phosphate (1.06 ± 0.28 mmol/L vs. 0.77 ± 0.17 mmol/L, <i>P</i> = 0.008), and lower 24-hour urinary calcium excretion (24hUCa) (<i>P</i> &lt; 0.001). Bone turnover markers (BTMs) were lower (<i>P</i> ≤ 0.001), low bone mass was less frequent (<i>P</i> = 0.005), and parathyroid imaging results were frequently negative in FHH1. Eight <i>CASR</i> variants were identified, including 4 novel variants (c.197G &gt; C, c.488&#xa0;C &gt;T, c.1042del, c.2386&#xa0;A &gt;G). ROC analysis indicated that 24hUCa &lt; 3.71 mmol/24&#xa0;h optimally distinguished FHH1 from s-PHPT.</p> Conclusion <p>The relatively large single-center Chinese FHH1 cohort presented younger with similar serum calcium, milder PTH elevation, relatively normal BTMs, and less target-organ involvement than s-PHPT. A new cut-off value of 24hUCa may serve as a practical pre-genetic screening tool.</p>

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Clinical and Genetic Profile of Chinese Familial Hypocalciuric Hypercalcemia Type 1 (FHH1): A Retrospective Study

  • 期刊论文

  • 发表日期：

    2026年4月1日

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  • Liyuan Kou,
  • An Song,
  • Min Nie,
  • Yue Jiang,
  • Yingyu Chen,
  • Yiyang Gao,
  • Yan Jiang,
  • Mei Li,
  • Weibo Xia,
  • Ou Wang,
  • Xiaoping Xing

摘要

Purpose

To characterize the clinical and genetic features of Chinese FHH type 1 (FHH1) patients and evaluate biochemical discriminators between FHH1 and sporadic primary hyperparathyroidism (s-PHPT).

Methods

This retrospective study included 11 genetically confirmed FHH1 and 55 s-PHPT patients. Their clinical, biochemical, and imaging data were compared. Genetic testing was conducted via targeted next-generation or whole-exome sequencing. The key discriminators were assessed by receiver operating characteristic (ROC) analysis.

Results

Among the 11 FHH1 patients, 63.6% were females and 63.6% had a family history. Incidentally detected hypercalcemia was the most common cause (72.7%). Compared with s-PHPT, FHH1 were younger at diagnosis [38.1 ± 17.4 years vs. 53.6 ± 14.0, P = 0.002], had lower parathyroid hormone level [41.80 (28.89, 124.00) pg/mL vs. 233.90 (136.6, 521.6) pg/mL, P < 0.001], higher serum phosphate (1.06 ± 0.28 mmol/L vs. 0.77 ± 0.17 mmol/L, P = 0.008), and lower 24-hour urinary calcium excretion (24hUCa) (P < 0.001). Bone turnover markers (BTMs) were lower (P ≤ 0.001), low bone mass was less frequent (P = 0.005), and parathyroid imaging results were frequently negative in FHH1. Eight CASR variants were identified, including 4 novel variants (c.197G > C, c.488 C >T, c.1042del, c.2386 A >G). ROC analysis indicated that 24hUCa < 3.71 mmol/24 h optimally distinguished FHH1 from s-PHPT.

Conclusion

The relatively large single-center Chinese FHH1 cohort presented younger with similar serum calcium, milder PTH elevation, relatively normal BTMs, and less target-organ involvement than s-PHPT. A new cut-off value of 24hUCa may serve as a practical pre-genetic screening tool.