Brief report: autosomal dominant familial hypoparathyroidism, sensorineural deafness, and renal dysplasia

Article Abstract:

An association between hypoparathyroidism, kidney dysplasia, or abnormal tissue development, and deafness was found among individuals from a family with familial hypoparathyroidism. Familial hypoparathyroidism is a genetic disorder that can affect blood levels of calcium and is often associated with other abnormalities. Evaluation of a family with familial hypoparathyroidism found that eight family members were affected and five were not. Four family members were deaf and were suffering from hypoparathyroidism and kidney dysplasia. Two members were diagnosed with kidney dysplasia, but they had normal hearing and normal blood levels of calcium. Two other family members may have been suffering from hypoparathyroidism. One of these individuals died suddenly during infancy, and the other had low blood levels of calcium. Affected members of this family may be suffering from a new syndrome that is inherited.

Evaluation, Deafness, Familial diseases, Hypoparathyroidism

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A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium-sensing receptor

Article Abstract:

Hypocalcemia in the presence of normal parathyroid functioning may be due to a mutation in the calcium-sensing receptor gene. This receptor controls the excretion of calcium by the kidneys and the secretion of parathyroid hormone. Researchers analyzed DNA in blood samples from 6 families diagnosed with hypoparathyroidism because they had hypocalcemia, or low blood calcium levels. Five mutations were found in the calcium-sensing receptor gene. Genetic analysis would allow patients with familial hypocalcemia to be distinguished from those with hypoparathyroidism, since the treatments are different.

Health aspects, Gene mutations, Gene mutation, Calcium metabolism disorders, Hypocalcemia

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Genetic disorders of renal electrolyte transport

Article Abstract:

Gene mutations have been discovered that explain several diseases caused by abnormal transport of electrolytes in the kidneys. Electrolytes is the term for minerals present in the blood. The mutations affect transport proteins in the kidney tubule. This is the part of the kidney that filters wastes from blood. The diseases include Liddle's syndrome, pseudohypoaldosteronism type I, Bartter's syndrome, and Gitelman's syndrome. The specific gene mutations linked to these disorders are discussed.

Electrolyte metabolism

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