带血管甲状腺-甲状旁腺移植术5例报告

用带血管的胎儿甲状旁腺移植术治疗甲状旁腺机能低下症,共行手术6次(腹腔内移植5次,股三角区移植1次),6次中有3例术后发生4次排斥反应。经1年8月至3.5年随防,疗效显著者2例,有效2例,失败1例。本文讨论了有关甲状旁腺移植的手术方法、注意事项、免疫抑制剂应用等问题。     

特发性甲状旁腺机能减退症颅脑CT及MRI表现

目的探讨颅脑CT及MRI检查对特发性甲状旁腺机能减退症(IHP)的诊断价值。方法回顾性分析16例经临床确诊的IHP患者头颅CT(16/16)和MRI(3/16)表现,观察病变的范围和密度/信号等特点。结果IHP颅内主要表现为多发钙化性病变,在CT上表现为高密度,CT值114～373HU,在MRT1WI呈稍高信号或高信号,T2WI呈等信号。双侧尾状核、苍白球、壳核及丘脑的对称性、条形或团块状钙化16例;双侧额、颞、顶、枕叶皮层下钙化10例;小脑齿状核钙化6例(双侧4例,单侧2例);侧脑室旁钙化2例。结论CT和MR对IHP的诊断非常重要,其中CT对病变的显示优于MR,与临床结果结合,对IHP具有定性诊断意义。     

Hypoparathyroidism: A rare treatable cause of epilepsy – report of two cases

Hypoparathyroidism occurs due to insufficient production of parathyroid hormone to maintain extracellular calcium levels within the normal range. The acute clinical symptoms and signs of hypoparathyroidism are those of hypocalcaemia, ranging from tingling and numbness of limb extremities to intractable seizures. Often seizures are mistaken for epilepsy. Though hypoparathyroidism is not uncommon, the diagnosis is often missed due to its unusual clinical manifestation. This is the first documented report with vitamin D, Parathormone levels and urinary biochemical parameters from India. We present two cases of hypoparathyroidism who presented with seizures along with a short review of literature.     

Assessment of enamel hypoplasia in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED)

The features of enamel hypoplasia in a small group of patients with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) are described. Using a recently developed method, the authors evaluated quantitatively the amount of defect in each tooth by measuring the width of the hypoplastic lesions and dividing the value by the crown height. They then assessed the degree of damage in each tooth type (from central incisors to second premolars) and patient. Canines were the most severely affected among maxillary and mandibular teeth, but all tooth types were involved. Analysing both the differences between patients and their age at the beginning of the defect, the authors observe that hypoparathyroidism is not responsible for the onset of enamel hypoplasia in APECED, although it may contribute to the damage.     

Autoimmune polyendocrinopathy – candidosis – ectodermal dystrophy (APECED): autosomal recessive inheritance

A genetic analysis was made of 58 patients and their 42 families with APECED (autoimmune polyendocrinopathy--candidosis--ectodermal dystrophy). APECED is characterized by hypoparathyroidism, primary adrenocortical failure and chronic mucocutaneous candidosis, but none of its components is constant. Other endocrine deficiencies can occur as well and also dystrophy of dental enamel and nails. The proportion of affected siblings was 0.147 +/- 0.034 (S.D.) when corrected for truncate single ascertainment, 0.246 +/- 0.019 when corrected for a priori truncate complete ascertainment and 0.240 +/- 0.047 when corrected for a posteriori truncate complete ascertainment. The male/female ratio was 1.04. The results are compatible with autosomal recessive transmission. No heterozygous manifestations of the gene were found. The gene is enriched in isolated subpopulations in central and eastern Finland. APECED is part of the "Finnish heritage of disease".     

Early‐onset hypoparathyroidism and chronic keratitis revealing APECED

Early diagnosis of potentially life‐threatening autoimmune polyendocrinopathy‐candidiasis‐ectodermal dystrophy (APECED) is crucial, but is often delayed due to the clinical heterogeneity of the disorder. Even in the absence of the classic disease triad of chronic mucocutaneous candidiasis, hypoparathyroidism, and adrenocortical insufficiency, a diagnosis of APECED should be considered in children who have hypoparathyroidism and chronic keratitis, with a past medical history showing a mild and transient Candida infection.     

CLINICAL EXPERIENCES WITH HUMAN PARATHYROID HORMONE 1–34*

Human parathyroid hormone (PTH) 1–34 was given to nine normal subjects and to 10 patients with hypoparathyroidism. There were no side effects associated with the protocol employed. In normal subjects, five statistically significant changes occurred during the period of observation: plasma cyclic adenosine monophosphate (cAMP) rose by a factor of 3 (at 30 min), nephrogenous cyclic AMP rose approximately 40-fold (at 60 min), urinary phosphate rose by a factor of 2 (at 120 min), urine calcium levels fell by 50% between 60 and 120 min, and plasma prolactin rose by a factor of 1.4 (at 60 min). The cAMP responses were significantly blunted in five patients with chronic hypocalcemia, chronic hyperphosphatemia, and detectable serum immunoreactive PTH levels. On the basis of this test these patients were designated as suffering from pseudohypoparathyroidism. The acute phosphaturic and hypocalciuric responses were apparently intact in these five individuals. Human PTH 1–34 is likely to replace bovine material in the delineation of syndromes associated with PTH resistance.