Aspectos clínicos da doença renal policística autossômica recessiva DRPAR
Aspectos clínicos da doença renal policística autossômica recessiva DRPAR
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肾病临床临床方面的隐性肾病 DRPAR
DOI：
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发表时间：
2010
期刊：
影响因子：
--
通讯作者：
V. Koch
中科院分区：
文献类型：
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作者：
Natasha Favoretto Dias;V. Lanzarini;L. F. Onuchic;V. Koch
简介：常染色体隐性多囊肾病（ARPKD）是一种重要的儿科发病率和死亡率的原因，具有可变的临床谱。方法：根据Guay-Woodford等人提出的表格，通过临床记录审查分析了25例患者（Pts）的临床表现和演变。根据发病频率和年龄评价了与疾病相关的发病率。结果：诊断时的中位年龄为61.45个月（0至336.5个月），性别分布相似（52%的患者为女性）。20%（5/25）的病例有ARPKD家族史，其中2例与血缘关系有关。到达时，56%的患者（14/25）诊断为动脉高压（SAH）; 24%（6/25）诊断为慢性肾脏疾病2期（CKD > 2）; 40%（10/25）诊断为尿路感染（UTI）; 32%（8/25）诊断为门静脉高压（PH）。80%的初始腹部超声检查发现回声肾与肉眼囊肿和64%显示正常的肝脏和胆管。在分析的患者中，36%使用ACE抑制剂，20%使用β受体阻滞剂，28%使用钙通道阻滞剂，36%使用利尿剂。在最终评估中，平均随访时间为152.2个月（29.8至274.9个月）后，76%的病例检测到SAH，44%的病例检测到CKD > 2，52%的病例检测到UTI，68%的病例检测到PH。结论：与ARPKD相关的高发病率和死亡率证明有必要建立一个国际数据库，目的是建立早期治疗支持。
INTRODUCTION: Autosomal Recessive Polycystic Kidney Disease (ARPKD) is an important pediatric cause of morbidity and mortality, with a variable clinical spectrum. METHODS: The clinical presentation and evolution of 25 patients (Pts) were analyzed by clinical record review, according to the forms proposed by Guay-Woodford et al. Morbidities associated with the disease were evaluated with respect to their frequencies and age of onset. RESULTS: The median age at the diagnosis was 61.45 months (0 to 336.5 months), with similar gender distribution (52% of the patients were female). A family ARPKD history was found in 20% of the cases (5/25), two of them associated with consanguinity. On arrival, arterial hypertension (SAH) was diagnosed in 56% of the Pts (14/25); chronic kidney disease stage > 2 (CKD > 2) in 24% (6/25); urinary tract infection (UTI) in 40% (10/25); and portal hypertension (PH) in 32% of the cases (8/25). Eighty percent of the initial abdominal ultrasonograms detected echogenic kidneys with gross cysts and 64% demonstrated normal liver and biliary ducts. ACE inhibitors were used in 36% of the analyzed patients, beta-blockers in 20%, calcium channel blockers in 28%, and diuretics in 36% of them. In the final evaluation, after an average follow-up time of 152.2 months (29.8 to 274.9 months), SAH was detected in 76% of the cases, CKD > 2 in 44%, UTI in 52% and PH in 68%. CONCLUSION: The high morbidity and mortality associated with ARPKD justify the assembly of an international database, with the aim of establishing an early therapeutic support.
影响因子：
19.6
作者：
Menezes, LFC;Cai, YQ;Onuchic, LF
通讯作者：
Onuchic, LF
DOI：
10.1097/01.asn.0000039578.55705.6e
发表时间：
2003-01-01
影响因子：
13.6
作者：
Bergmann, C;Senderek, J;Zerres, K
通讯作者：
Zerres, K
严重的围产期常染色体隐性多囊肾病映射到染色体 6p21.1-p12：对遗传咨询的影响。
影响因子：
9.8
作者：
Guay-Woodford,LM;Muecher,G;Hopkins,SD;Avner,ED;Germino,GG;Guillot,AP;Herrin,J;Holleman,R;Irons,DA;Primack,W
通讯作者：
Primack,W