Unrepaired persistent truncus arteriosus in a 38-year-old woman with an uneventful pregnancy

Persistent truncus arteriosus (PTA) is a rare conotruncal defect, defined as a single arterial vessel arising from the heart, which gives origin to the systemic, pulmonary and coronary circulations. It has an extremely poor prognosis and carries a high mortality rate during the early years of life unless surgically repaired. A few known cases have been reported of patients reaching maturity, and exceptionally, patients suffering from this disease having lived into the fourth decade.The purpose of this report was to present a new case of PTA type 1, diagnosed by echocardiography and MRI, in a 41-year-old woman, with the peculiarity of long survival into adult life. She had also experienced a full-term pregnancy and delivery of a normal infant three years prior to her diagnosis. Pulmonary vascular disease made her condition inoperable but she was doing well with medical management after a follow up of 15 months. Based on this work, we concluded that pulmonary arterial hypertension is deleterious for life in some cardiovascular diseases, but in others, allows survival, as occurred in these patients with PTA. The patient’s clinical course and anatomical findings are reported, along with factors that may have contributed to her longevity.     

110例原发性胆汁性肝硬化的治疗研究

目的:探讨原发性胆汁性肝硬化(PBC)的有效治疗方案.方法:110例PBC患者分为熊去氧胆酸(UD-CA)治疗组,UDCA加泼尼松治疗组,UDCA加复方茵陈注射液治疗组,UDCA加思美泰治疗组及UDCA加思美泰及中药联合治疗组,治疗前及治疗满2周、4周时测定血清总胆红素(TBil)水平,采用配对设计t检验方法进行统计学分析.结果:疗程满4周后,各治疗组血清TBil均有显著统计学意义下降,UDCA与其他药物联合治疗各组均较单独应用UDCA治疗组TBil下降速度快,幅度大.其中UDCA与中药及思美泰联合组治疗2周后TBil均较前明显下降(P＜0.01和P＜0.05);UDCA与强的松组治疗后TBil亦呈持续下降趋势,但随治疗时间延长,使用激素的副作用发生率增加.结论:UDCA与思美泰、中药联合应用是治疗PBC的较好方法.     

Duodenal Ulcer and Sjogren''s Syndrome in Patients with Primary Biliary Cirrhosis: A Casual Association?

Peptic ulcer has been reported in patients with primary biliary cirrhosis (PBC), but its frequency and pathogenesis are still poorly defined. We have analyzed the occurrence of duodenal ulcer in 37 female patients affected by PBC and in 35 with chronic liver disease of various etiologies. An active ulcer was found in seven patients with PBC and in one with chronic autoimmune hepatitis. The presence of an exocrine gland defect, as indicated by clinical signs of Sjogren's syndrome (SS), was found in six patients with PBC and duodenal ulcer (85%), but in only eight (26.6%) of those without ulcer (p less than 0.02). Therefore, in our patients, duodenal ulcer occurs more often in PBC than in other types of chronic liver disease. The association of SS with PBC, significantly higher in patients with than without ulcer, supports the hypothesis that the underlying exocrine gland defect is involved in the development of duodenal ulcer.     

Moexipril for Treatment of Primary Biliary Cirrhosis in Patients with an Incomplete Response to Ursodeoxycholic Acid

Blockade of angiotensin II synthesis attenuates hepatic fibrosis in different experimental models of chronic liver injury. We evaluated the safety and efficacy of moexipril, an angiotensin-converting enzyme inhibitor, in patients with primary biliary cirrhosis (PBC) who have had a suboptimal response to ursodeoxycholic acid (UDCA). Twenty PBC patients on UDCA (13–15 mg/kg/day) therapy with an elevation of serum alkaline phosphatase at least twice the upper limit of normal were treated with oral moexipril 15 mg/day for one year. No significant changes in serum alkaline phosphatase (379 ± 32 vs. 379 ± 51), bilirubin (0.8 ± 0.1 vs. 0.9 ± 0.1), aspartate aminotransferase (60 ± 8 vs. 63 ± 9), and Mayo risk score (3.55 ± 0.2 vs. 3.62 ± 0.2) was associated with the treatment. Fatigue and health-related quality of life scores during treatment demonstrated a trend toward improvement. Moexipril was not clinically beneficial to PBC patients responding suboptimally to UDCA.     

Modafinil in the Treatment of Debilitating Fatigue in Primary Biliary Cirrhosis: A Clinical Experience

Modafinil may be a potentially effective treatment for primary biliary cirrhosis (PBC)-related fatigue. About 42 patients were given a 3-day trial of 100–200 mg modafinil. Response was defined as increased energy, decreased somnolence and sleep requirements, and improved daily function. Patients with positive responses were continued indefinitely on the medication. During the initial trial period, 31 (73%) patients had complete response and continued to take the medication. Eleven (26%) had no response. In long-term follow-up (average 17.7 months), 25 (81%) patients continued to take 100–200 mg modafinil daily. Some required an increased dosage and some took the medication as needed. Four (12%) patients stopped the medication because of side-effects or reduced efficacy; one patient (3%) stopped due to medication cost and one (3%) due to resolution of fatigue. Side-effects included insomnia, nausea, nervousness, and headaches. Modafinil appears to be a safe, effective treatment for PBC-related fatigue.     

Association of Primary Biliary Cirrhosis with Vitamin D Receptor BsmI Genotype Polymorphism in a Hungarian Population

We sought to determine the distribution of vitamin D receptor genotypes defined by the BsmI polymorphism and to investigate their association with bone mineral density in patients with primary biliary cirrhosis. Vitamin D receptor genotype and bone mineral density at the lumbar spine was determined in 31 female Hungarian patients with primary biliary cirrhosis and 51 age-matched healthy female controls. The genotype frequency (BB: 45%, Bb: 32%, bb: 22%) of the patients was significantly different from the control group (P = 0.01) due to an overrepresentation of the BB genotype. There was an apparent trend, not reaching statistical significance, for a lower bone mineral density in both the patient and control groups carrying a B allele. In conclusion, we found a strikingly high frequency of the BB genotype in patients with primary biliary cirrhosis, which raises questions about hormonal influences on the development of primary biliary cirrhosis.