Familial hypocalciuric hypercalcemia natural history, complications and prognosis
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
Overview
If left untreated, [#]% of patients with [disease name] may progress to develop [manifestation 1], [manifestation 2], and [manifestation 3].
OR
Common complications of [disease name] include [complication 1], [complication 2], and [complication 3].
OR
Prognosis is generally excellent/good/poor, and the 1/5/10-year mortality/survival rate of patients with [disease name] is approximately [#]%.
Natural History, Complications, and Prognosis
Natural History
- Patients with familial hypocalciuric hypercalcemia are asymptomatic, but rarely can present with signs and symptoms of hypercalcemia. such as
[1].
Complications
- The complications associated with primary hyperparathyroidism, like osteopenia and nephrolithiasis, is not increased in persons with benign familial hypocalciuric hypercalcemia, and the rates are similar to those in the general population.
- Rarely, a severe form of this disease, neonatal severe primary hyperparathyroidism is seen in infants with homozygous CASR mutations.[2]
- Very rarely FHH is associated with[3][4][5]
Prognosis
- Prognosis is similar to the general population in patients with familial hypocalciuric hypercalcemia.[6]
References
- ↑ Whitcomb DC (2010). "Genetic aspects of pancreatitis". Annu. Rev. Med. 61: 413–24. doi:10.1146/annurev.med.041608.121416. PMID 20059346.
- ↑ Varghese J, Rich T, Jimenez C (2011). "Benign familial hypocalciuric hypercalcemia". Endocr Pract. 17 Suppl 1: 13–7. doi:10.4158/EP10308.RA. PMID 21478088.
- ↑ Marx SJ, Attie MF, Levine MA, Spiegel AM, Downs RW, Lasker RD (1981). "The hypocalciuric or benign variant of familial hypercalcemia: clinical and biochemical features in fifteen kindreds". Medicine (Baltimore). 60 (6): 397–412. PMID 7311809.
- ↑ Law WM, Heath H (1985). "Familial benign hypercalcemia (hypocalciuric hypercalcemia). Clinical and pathogenetic studies in 21 families". Ann. Intern. Med. 102 (4): 511–9. PMID 3977197.
- ↑ Heath H (1989). "Familial benign (hypocalciuric) hypercalcemia. A troublesome mimic of mild primary hyperparathyroidism". Endocrinol. Metab. Clin. North Am. 18 (3): 723–40. PMID 2673770.
- ↑ "Familial Benign Hypercalcemia (Hypocalciuric Hypercalcemia)Clinical and Pathogenetic Studies in 21 Families | Annals of Internal Medicine | American College of Physicians".