Allan-Herndon-Dudley综合征诊疗现状

Allan-Herndon-Dudley综合征(AHDS)是因甲状腺激素(TH)转运体基因SLC16A2突变, 致其编码单羧酸转运蛋白8(MCT8)功能失活, 不能介导TH进入靶细胞引起的内分泌罕见病。主要临床表现为脑甲状腺功能减退(甲减)所致的严重神经运动发育异常, TH分泌代谢异常所致血清学(高T3、低T4、正常或轻度升高的促甲状腺激素)改变及外周组织甲状腺毒症。基因检测证实SLC16A2基因变异可确诊。有效的治疗应以改善脑甲减和外周甲状腺毒症以及恢复蛋白功能为目标。相比于激素替代治疗, T3类似物三碘甲状腺乙酸可以不依赖MCT8进入细胞, 激活TH受体而发挥TH样作用, 在改善患者外周甲状腺功能亢进症状上疗效显著, 对神经表型可能也有效, 是目前治疗AHDS较好的方法;旨在恢复MCT8功能的基因替代和伴侣分子治疗仍处于研究阶段。     

家族性肺泡微石症2例并文献复习

目的 探讨肺泡微石症(pulmonary alveolarmicrolithiasis,PAM)的病因、流行病学及临床特点,以提高对该病的临床认识.方法 对2例家族型肺泡微石症患者进行病例报道和文献复习.结果 PAM是一种具有家族聚集倾向的常染色体隐性遗传疾病,临床症状轻微,影像学改变较明显,表现为两肺弥漫性小结节影,以中下肺为主,病理表现为肺泡腔内不规则同心分布的钙盐沉着,无有效治疗手段,主要是以对症治疗为主,终末期可进行肺移植.结论 PAM是一种临床症状与影像学表现不相称的呼吸系统疾病,容易被误诊为肺结核,诊断不明时,可行病理检查进一步确定诊断.     

肺泡微石症1例并文献复习

目的总结1例诊断和治疗肺泡微石症的临床过程,提高对该疾病的认识。方法分析我院1例肺泡微石症的临床资料,并文献复习。结果患者以咳嗽及气喘起病,并逐渐加重,入院时已出现肺动脉高压及右心功能不全表现,肺部CT表现为双肺弥漫性密度增高的间质性改变,以中下肺野和近胸膜下较为密集,呈典型的"火焰征",通过外送基因检测发现SLC34A2基因中第8个外显子有纯合子突变(c.A910T),因此临床诊断为肺泡微石症。入院后予吸氧、抗感染、平喘、利尿及降低肺动脉压等对症治疗,患者症状可减轻。结论肺泡微石症临床表现无特异性,影像学表现较典型,若发展至晚期,可通过SLC34A2基因检测协助临床诊断。     

一例原发性肾性糖尿患者的临床与基因突变分析并文献复习

目的 通过1例原发性肾性糖尿 (primary renal glucosuria, PRG) 患者的临床特点及基因突变位点分析,结合文献复习探讨原发性肾性糖尿的作用机制、病程进展及存在的问题。方法 对华中科技大学同济医学院附属同济医院肾内科收治的1例PRG患者的基本资料、实验室检查及基因突变位点结果进行回顾性分析,并对相关文献进行复习。 结果 患者的临床表现和实验室检查符合PRG诊断。基因突变位点分析显示,患者SLC5A2基因12号外显子3’剪切位点存在IVS12 ds+1 G>A杂合突变,且对基因的功能产生影响,为致病性突变。结论 通过SLC5A2基因的突变位点分析,从遗传学方面证实患者PRG的诊断。临床上血糖正常但尿糖阳性,且无其他近端肾小管功能障碍表现的患者应考虑该疾病的可能,基因分析有助于确诊。     

获得性血友病A2例报道并文献复习

目的:总结获得性血友病A的临床特点,以提高对本病的认识。方法:分析2例获得性血友病A的临床资料,并结合有关文献进行复习。结果:2例患者均为老年男性,表现为自发性皮肤软组织出血及内脏出血,APTT明显延长且不能被正常血浆纠正,FⅧ:C活性下降,1例经激素治疗治愈,1例死亡。结论:获得性血友病发病突然,出血严重,及早诊断,控制急性出血,清除抗体是治疗的关键。     

垂体甲状腺激素抵抗综合征1例报道并文献复习

甲状腺激素抵抗综合征(resistance to the thyroid hormone,RTH)又称甲状腺激素不敏感综合征(thyroid hormone insensitivity syndrome,THIS),是由于甲状腺激素受体(thyroid hormone receptor,TR)基因突变,或甲状腺激素(t...     

SLC30A8基因rs13266634C/T多态性与甘肃省东乡族及回族2型糖尿病的相关性研究

目的 探讨SLC30A8基因rs13266634C/T遗传多态性与甘肃东乡族及回族T2DM的关系。 方法 应用PCR–RFLP检测甘肃东乡族、回族T2DM（T2DM组）患者和健康对照者 （NC组）者SLC30A8的基因型。 结果 东乡族、回族T2DM组CC基因型（39.07% vs 40.80%）、C等位基因（61.80% vs 62.40%）频率均高于NC组（23.30% vs 26.00%;50.00% vs 51.60%）（P〈0.05）。 结论 SLC30A8基因多态性与甘肃东乡族和回族人群T2DM发病有关,C是其风险等位基因。     

SLC30 A8基因rs13266634多态性与甘肃汉族、回族2型糖尿病的相关性

目的探讨SLC30A8基因rs13266634单核苷酸多态性(SNP)在甘肃汉族、回族人群中的分布及其与2型糖尿病(T2DM)的关系。方法应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法检测汉族和回族T2DM组和对照组SLC30A8基因的基因型,同时进行人体测量学及临床指标的检测,分别采用稳态模型评估胰岛素抵抗指数(HOMA-IR)和胰岛!细胞分泌功能指数(HOMA-!)评估胰岛素抵抗(IR)和胰岛!细胞功能。结果 SLC30A8基因的基因型CC、CT和TT频率在汉族、回族T2DM组和对照组之间比较有差异(P均0.05);等位基因C、T频率在汉族、回族T2DM组和对照组之间比较亦有差异(P均0.05)。汉族C等位基因患T2DM的风险是T等位基因的1.54倍(OR=1.54,95%CI 1.09~2.16);回族C等位基因患T2DM的风险是T等位基因的1.56倍(OR=1.56,95%CI 1.09~2.22)。结论 SLC30A8基因rs13266634多态性与甘肃汉族、回族T2DM的发病相关,C等位基因可能是T2DM发病的易感基因之一。     

Gitelman综合征伴2型糖尿病一例报道

59岁女性患者因"反复低血钾24年,多尿、口干、多饮2个月"入院.实验室检查示低钾血症性碱中毒、低镁血症、继发性醛固酮增多症、低尿钙以及血糖偏高.第一代测序检测到SLC12A3基因有2个杂合突变,即外显子4区c.506?1G>A和c.536T>A,诊断为Gitelman综合征伴T2DM.经降糖、补钾、补镁联合醛固酮拮抗...     

LEMD3基因突变导致骨斑点症1例报告及文献复习

分析1例骨斑点症患者的临床特点并检测LAP2-emerin-MAN1 domain-containing protein 3(LEMD3)基因突变,结合文献探讨骨斑点症的发病机制、临床表现、病理特征及影像学特点。患者,女性,37岁,汉族,因体检X线胸片发现肩关节异常就诊。父母非近亲结婚,家族中无类似病史。体格检查示四肢关节活动自如,无压痛。X线片检查发现肱骨、锁骨、肩胛骨及部分肋骨、骨盆、双膝关节和双踝关节骨内多发边缘清晰、密度均匀的圆形或卵圆形钙化点。实验室生化检查未见异常。基因组DNA进行LEMD3基因突变检测,结果显示在12号外显子上存在1个杂合错义突变,即c. 2569G>A,导致p. Gly858Arg。骨斑点症是一种罕见的良性骨质硬化性疾病,临床症状常不明显。临床上对骨斑点症应常规检测LEMD3基因突变。     

Mycobacterium haemophilum osteomyelitis: case report and review of the literature

Background  

Mycobacterium haemophilum is a slow-growing, fastidious, iron-requiring microorganism that, relative to other non-tuberculous mycobacterial species, has rarely been documented as a cause of human infection. This microorganism appears to be acquired via environmental exposure although its natural habitat and mode of acquisition are unknown. It has primarily been implicated as a cause of ulcerating cutaneous or subcutaneous nodular skin lesions, particularly in immunocompromised patients, although infections at extracutaneous sites have also been described. Osteomyelitis, while rarely documented, appears to be an important complication of infection with M. haemophilum in these patients.     

CNKSR2 gene mutation leads to Houge type of X-linked syndromic mental retardation: A case report and review of literature

Rationale:Mutations of connector enhancer of kinase suppressor of Ras-2 (CNKSR2) gene were identified as the cause of Houge type of X-linked syndromic mental retardation. The mutations of CNKSR2 gene are rare, we reporta patient carrying a novel nonsense mutation of CNKSR2,c.625C > T(p.Gln209^∗) and review the clinical features and mutations of CNKSR2 gene for this rare condition considering previous literature.Patient concerns:We report a case of a 7-year and 5-month-old Chinese patient with clinical symptoms of intellectual disability, language defect, epilepsy and hyperactivity. Genetic study revealed a novel nonsense variant of CNKSR2, which has not been reported yet.Diagnosis:According to clinical manifestations, genetic pattern and ACMG classification of mutation site as Class 1-cause disease, the patient was diagnosed as Houge type of X-linked syndromic mental retardation caused by CNKSR2 gene mutation.Interventions:The patient was administrated with a gradual titration of valproic acid (VPA).Outcomes:On administration of valproic acid, he had no further seizures.Lessons:This is the first time to report a nonsense variant in CNKSR2, c.625C > T(p.Gln209^∗), this finding could expand the spectrum of CNKSR2 mutations and might also support the further study of Houge type of X-linked syndromic mental retardation.     

NAXE gene mutation-related progressive encephalopathy: A case report and literature review

Rationale:Progressive encephalopathy with brain edema and/or leukoencephalopathy-1 is an infantile, lethal neurometabolic disorder caused by a NAD(P)HX epimerase (NAXE) gene mutation. It is characterized by a fluctuating disease course with repeated episodes of improvement and regression. In this report, we present a rare case of NAXE gene mutation-related encephalopathy with unexpected neurological recovery and long survival time.Patient concerns:A 20-month-old girl presented with progressively unsteady gait and bilateral hand tremors after a trivial febrile illness. Her disease rapidly progressed to consciousness disturbance, 4-limb weakness (muscle power: 1/5 on the Medical Research Council scale), and respiratory failure. The patient gradually recovered 2 months later. However, another episode of severe fever-induced encephalopathy developed 2 years after the initial presentation.Diagnoses:Results of laboratory investigations, including complete blood count, blood chemistry, inflammatory markers, and cerebral spinal fluid analysis were unremarkable. Electroencephalography and nerve conduction velocity studies yielded normal results. Brain magnetic resonance imaging on diffusion-weighted imaging revealed abnormal sysmmetric hyperintensity in the bilateral middle cerebellar peduncles. A genetic study using whole exome sequencing confirmed the diagnosis of NAXE gene mutation-related encephalopathy.Interventions:Pulse therapy with methylprednisolone, intravenous immunoglobulin, coenzyme Q10, and carnitine were initially introduced. After a NAXE gene defect was detected, the vitamin B complex and coenzyme Q10 were administered. A continuous rehabilitation program was also implemented.Outcomes:NAXE gene mutation-related encephalopathy is usually regarded as a lethal neurometabolic disorder. However, the outcome in this case is better than that in the previous cases. She showed progressive neurological recovery and a longer survival time. The muscle power of the 4 limbs recovered to grade 4. At present (age of 5.5 years old), she can walk with an unsteady gait and go to school.Lessons:Although NAXE gene mutation-related encephalopathy is rare, it should be considered as a differential diagnosis of early onset progressive encephalopathy.     

Presacral ganglioneuroma: A case report and review of literature

Presacral ganglioneuromas are so rare benign tumors that only 17 cases have been reported in the literature. They are abdominal masses growing slowly and differential diagnoses have to be considered. Surgical resection is important for definitive diagnosis because it represents the only therapeutic choice. Because of the benign nature of ganglioneuroma, adjuvant chemo-or radiotherapy is not indicated but regular follow-up is necessary for an early diagnosis of potential local recurrence. We report a case of a 64-year-old man with a presacral ganglioneuroma.