Lewis D W
Department of Pediatric Neurology, US Naval Hospital, Portsmouth, Va.
Am J Dis Child. 1992 Dec;146(12):1403-7. doi: 10.1001/archpedi.1992.02160240013002.
One of the most endearing characters in English literature is Tiny Tim, the crippled son of Ebenezer Scrooge's clerk, Bob Cratchit. Yet the nature of Tiny Tim's multifaceted and implicitly reversible illness is a mystery and open to debate and speculation. From details of the original manuscript and the eight film versions, it is possible to construct a differential diagnosis for Tim's short stature, asymmetric crippling disorder, and curious intermittent weakness that would lead to his death, if untreated, within a period of 1 year. Following the ghostly visitations, Scrooge vows to assist the struggling Cratchit family financially, thereby making available the best medical care money could buy. From review of pediatrics texts from 1830 to 1850, a recommended treatment plan would have included (1) general measures such as country air and exercise, and fish oils such as cod and halibut (vitamin D), and (2) specific treatments of tonics (containing combinations of belladonna, opium, sodium bicarbonate, sodium citrate, and potassium chloride) emphasizing alkalis, and splinting and bracing the limbs. Such treatments with vitamin D and alkalinization with sodium bicarbonate and sodium citrate suggest the plausible speculation that Tiny Tim had renal tubular acidosis (type I), a disorder that is characterized by growth failure and, if left untreated, complicated by osteomalacia with pathologic fractures, hypokalemic muscle weakness and periodic paralysis, nephrocalcinosis leading to renal failure, and death. I propose that Tiny Tim had distal renal tubular acidosis (type I).
英国文学中最可爱的角色之一是小蒂姆,他是埃比尼泽·斯克鲁奇的职员鲍勃·克拉奇蒂的残疾儿子。然而,小蒂姆那多方面且隐含着可逆转性的疾病的本质却是个谜,引发了诸多争论和猜测。从原始手稿及八个电影版本的细节来看,有可能为蒂姆的身材矮小、不对称性致残病症以及奇特的间歇性虚弱构建一份鉴别诊断,若不加以治疗,这些症状会在1年内导致他死亡。在幽灵来访之后,斯克鲁奇发誓要在经济上帮助苦苦挣扎的克拉奇蒂一家,从而使他们能够获得金钱所能买到的最佳医疗护理。通过回顾1830年至1850年的儿科学文献,推荐的治疗方案可能包括:(1)一般措施,如乡村空气、锻炼以及鱼肝油,如鳕鱼和大比目鱼的油(维生素D);(2)特定的滋补治疗(含有颠茄、鸦片、碳酸氢钠、柠檬酸钠和氯化钾的组合),强调使用碱,并对四肢进行夹板固定和支撑。这种使用维生素D以及用碳酸氢钠和柠檬酸钠进行碱化的治疗方法,引发了一种看似合理的推测,即小蒂姆患有肾小管酸中毒(I型),这种病症的特征是生长发育迟缓,如果不进行治疗,会并发骨软化症并伴有病理性骨折、低钾性肌肉无力和周期性麻痹、肾钙质沉着症进而导致肾衰竭以及死亡。我认为小蒂姆患有远端肾小管酸中毒(I型)。