Rare Diseases Symptoms Automatic Extraction

Spontaneous rib fractures in a black woman with familial hypocalciuric hypercalcemia.

[familial hypocalciuric hypercalcemia]

Familial hypocalciuric hypercalcemia (FHH) is a rare but important consideration in the differential diagnosis of hypercalcemia. FHH results from an autosomal dominantly inherited inactivating mutation of the calcium sensing receptor (CaSR) gene and is typically associated with a benign clinical course and normal bone mineral density.We describe the unusual case of a 57-year old African American woman with spontaneous rib fractures who was found to have FHH due to a novel set of polymorphisms of the CaSR gene. She also had hypertension, esophageal reflux disease treated with proton pump inhibitors, osteopenia by DEXA scanning, and a prior left ankle fracture in the absence of significant trauma. There was no suggestive family history and her only sibling had a normal serum calcium. The patient was evaluated extensively for potential causes of osteoporotic fractures.It is imperative to screen for FHH using 24-hour urinary calcium and creatinine excretion in subjects with hypercalcemia irrespective of ethnicity and a history of non-traumatic rib fractures. This approach may prevent unnecessary neck exploration for parathyroidectomy which is unwarranted in FHH.

Diseases presenting "hypertension" symptom

  • achondroplasia
  • acute rheumatic fever
  • adrenal incidentaloma
  • aniridia
  • aromatase deficiency
  • cadasil
  • child syndrome
  • cohen syndrome
  • congenital adrenal hyperplasia
  • congenital diaphragmatic hernia
  • cushing syndrome
  • cystinuria
  • erdheim-chester disease
  • erythropoietic protoporphyria
  • esophageal adenocarcinoma
  • fabry disease
  • familial hypocalciuric hypercalcemia
  • gm1 gangliosidosis
  • heparin-induced thrombocytopenia
  • hereditary cerebral hemorrhage with amyloidosis
  • holt-oram syndrome
  • homocystinuria without methylmalonic aciduria
  • hydrocephalus with stenosis of the aqueduct of sylvius
  • inclusion body myositis
  • kallmann syndrome
  • kindler syndrome
  • lamellar ichthyosis
  • lymphangioleiomyomatosis
  • pendred syndrome
  • primary effusion lymphoma
  • scrub typhus
  • severe combined immunodeficiency
  • sneddon syndrome
  • typhoid
  • von hippel-lindau disease
  • well-differentiated liposarcoma
  • werner syndrome
  • x-linked adrenoleukodystrophy
  • zellweger syndrome

This symptom has already been validated