Autosomal dominant hypoparathyroidism: a proband with concurrent nephrogenic diabetes insipidus
| Autor: | W J Poznanski, P N McLaine, H Heick, A G Hunter |
|---|---|
| Rok vydání: | 1981 |
| Předmět: |
Adult
Male Proband Pediatrics medicine.medical_specialty Hypoparathyroidism Internal medicine Cyclic AMP Genetics medicine Humans Hypocalcaemia Child Genetics (clinical) Genes Dominant business.industry Familial isolated hypoparathyroidism Genetic Variation medicine.disease Nephrogenic diabetes insipidus Pedigree Phenotype Endocrinology Parathyroid Hormone Diabetes insipidus Etiology Female business Diabetes Insipidus Sex linkage Research Article |
| Zdroj: | Journal of Medical Genetics. 18:431-435 |
| ISSN: | 1468-6244 |
| DOI: | 10.1136/jmg.18.6.431 |
| Popis: | In this paper we report an extended family with well documented autosomal dominant hypoparathyroidism which was ascertained through a proband with coincident nephrogenic diabetes insipidus. Clinical findings were limited to a slight decrease in overall stature and to clinical signs of hypocalcaemia. Intelligence was normal and two patients were asymptomatic. Published reports have established that autosomal dominant, autosomal recessive, and sex linked recessive familial isolated hypoparathyroidism exist. However, in almost half the reported families an X linked dominant aetiology cannot be excluded and, at present, clinical criteria provide only minimal aid in distinguishing between the different genetic types. There remains a need for detailed documentation of further families were the pattern of inheritance is clear. |
| Databáze: | OpenAIRE |
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