Assuntos
Doenças do Desenvolvimento Ósseo/tratamento farmacológico , Calcitonina/uso terapêutico , Doenças do Desenvolvimento Ósseo/complicações , Doenças do Desenvolvimento Ósseo/metabolismo , Feminino , Humanos , Hiperparatireoidismo/etiologia , Lactente , Nervo Óptico/cirurgia , Patela/diagnóstico por imagem , Radiografia , Crânio/diagnóstico por imagem , Transtornos da Visão/etiologia , Transtornos da Visão/cirurgiaRESUMO
We report three unrelated patients with Kenny syndrome. Clinical symptoms included severe dwarfism, with internal cortical thickening and medullary stenosis of the tubular bones, normal bone age, macrocephaly, absent diploic space, delayed closure of the anterior fontanel, and normal intelligence; two of the patients had hyperopia and papillary edema. The patients also had episodic hypocalcemic tetany and low serum levels of magnesium. In two patients the diagnosis of idiopathic hypoparathyroidism was established on the basis of undetectable serum parathyroid hormone (PTH) levels (N- and C-terminal RIAs); one of these had normal urinary cyclic adenosine monophosphate (cAMP) response to exogenous PTH. Circulating calcitonin was undetectable in either patient. In a third patient, who had abnormal body proportions, serum levels of PTH were increased in an RIA detecting predominantly intact PTH (N-RIA) and undetectable in another RIA recognizing carboxy-terminal fragments (C-RIA). Administration of PTH promptly increased urinary cAMP excretion. In this patient, serum levels of calcitonin were increased, whereas values for 25-OHD and 1,25(OH)2D were normal.