IllnessHypocalciuric hypercalcaemia, differential diagnosis

NGS +

[Sanger]

Familial hypercalcemia and hypocalciuria (FHH) often do not cause any, sometimes only unspecific symptoms such as weakness, fatigue, polydipsia, very rarely pancreatitis or chondrocalciulosis. Type 1 FHH is common (mutations in the CASR gene); type 2 (GNA11 gene mutations); type 3 (AP2S1 mutations). All three types are inherited autosomal dominantly (with unknown penetrance). In rare cases, FHH can be caused if antibodies are produced without genetic involvement of the immune system, which attack the CaSR protein. Genetic tests can confirm the diagnosis of FHH, except in rare cases of autoimmune diseases. The differential diagnosis includes hyperparathyroidism and related diseases. The diagnosis rate is practically unknown because of the lack of symptoms. If there are no symptoms, treatment is usually unnecessary.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK459190/

• Alias: Familial primary hyperparathyroidism
• Alias: Familiärer primärer Hyperparathyreoidismus
• Allelic: Epilepsy idiopathic generalized, susceptibility to, 8 (CASR)
• Allelic: Hyperparathyroidism, neonatal (CASR)
• Allelic: Hyperparathyroidism-jaw tumor syndrome (CDC73)
• Allelic: Hypocalcemia, AD (CASR)
• Allelic: Hypocalcemia, AD 2 (GNA11)
• Allelic: Hypocalcemia, AD with Bartter syndrome (CASR)
• Allelic: Hypoparathyroidism, familial isolated 2 (GCM2)
• Allelic: Parathyroid adenoma with cystic changes (CDC73)
• Allelic: Parathyroid carcinoma (CDC73)
• Hyperparathyroidism 4 (GCM2)
• Hyperparathyroidism, familial primary (CDC73)
• Hypocalciuric hypercalcemia, type I (CASR)
• Hypocalciuric hypercalcemia, type II (GNA11)
• Hypocalciuric hypercalcemia, type III (AP2S1)
• Multiple endocrine neoplasia (CDKN1A)
• Multiple endocrine neoplasia (CDKN1C)
• Multiple endocrine neoplasia (CDKN2B)
• Multiple endocrine neoplasia (CDKN2C)
• Multiple endocrine neoplasia 1 (MEN1)
• Multiple endocrine neoplasia 4 (CDKN1B)
• Parathyroid adenoma, somatic (MEN1)