Idiopathic hypoparathyroidism presenting with seizures during infancy: X-linked recessive inheritance in a large Missouri kindred
| Autor: | Michael P. Whyte, Virginia V. Weldon |
|---|---|
| Rok vydání: | 1981 |
| Předmět: |
Adult
Male Pediatrics medicine.medical_specialty X Chromosome Adolescent Hypoparathyroidism Birth trauma Genes Recessive Late neonatal hypocalcemia Idiopathic hypoparathyroidism High phosphate Seizures Diseases in Twins medicine Humans Neonatal hypocalcemia Child Sex Chromosome Aberrations X-linked recessive inheritance Acidosis Hypocalcemia business.industry medicine.disease Pedigree Pediatrics Perinatology and Child Health Female medicine.symptom business |
| Zdroj: | The Journal of Pediatrics. 99:608-611 |
| ISSN: | 0022-3476 |
| Popis: | HYPOCAI.CEMIA is most commonly encountered by pediatricians in neonates. ' Early neonatal hypocalcemia presents within the first two days of life and usually affects infants who are premature, are born of diabetic mothers, or have had anoxia, acidosis, or birth trauma. Late neonatal hypocalcemia is usually manifest at the end of the first week of life in infants who have been given feeding s with high phosphate content. Partial hypoparathyroidism appears to be important in the pathogenesis of both forms. This "physiologic" hypoparathyroidi sm is transient, i.e., usually lasts less than three to four weeks but occasionally as long as several months?, e Persistent idiopathic hypoparathyroidi sm is far less common. We report a large kindred in which IHP, presenting with hypocalcemia seizures in infant boys only, appears to be transmitted as an X-linked recessive trait. |
| Databáze: | OpenAIRE |
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