Hypocalcemia, Autosomal Dominant (ADH)

Autosomal dominant hypocalcemia (ADH) most often presents with neonatal or childhood seizures, which are usually secondary to infection and fever. Mild hypocalcemia is present, usually with no overt symptoms, as is a tendency towards hyperphosphatemia. Serum parathyroid levels are usually normal. Urinary calcium excretion is higher than is typically seen in patients with hypoparathyroidism, although serum parathyroid levels are more decreased in hypoparathyroid patients than those with ADH. Clinically there is an increased risk for renal complications, including nephrocalcinosis, renal stones, and impaired renal function

Tests Available

Forms and Documents

Test Details

CASR
  • Distinguish FHH from primary hyperparathyroidism and other disorders of calcium homeostasis
  • Confirmation of a clinical diagnosis
  • To determine appropriate treatment, including avoidance of parathyroidectomy in FHH patients
  • Prenatal diagnosis in pregnancies at-risk for NSHPT
  • Capillary Sequencing

Ordering

170
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs

Billing

81405x1
No
Yes
  • 275.4 Disorders of calcium metabolism
* For price inquiries please email zebras@genedx.com

References

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  2. Chou et al., (1995) Am J Hum Genet 56:1075-1079
  3. Pearce et al., (1995) J Clin Invest 96:2683-2692
  4. Pearce et al., (1996) NEJM 335(15):1115-1122
  5. Hendy et al., (2000) Hum Mut 16:281-296
  6. Hendy et al.,(2003) J of Clin Endocrin & Metab 88(8):3674-3681
  7. Warner et al., (2004) J Med Genet 41(3):155-60
  8. Lienhardt et al (2001) J Clin Endocr Metab 86:5313-5323
  9. Thakker (2004) Cell Calcium 35:275-28
  10. Gunn et al (2004) Ann Clin Biochem 41:441-58
  11. Simonds et al., (2002) Medicine (Baltimore) 81:1-26