Wakaki Hitoshi, Ikeda Masahiro, Hataya Hiroshi, Ishikura Kenji, Nakashima Taiji, Oosako Yutaka, Honda Masataka
Department of Pediatrics, Yokohama Municipal Citizen's Hospital, Kanagawa, Japan.
Nihon Jinzo Gakkai Shi. 2004 Oct;46(7):719-23.
Autosomal dominant polycystic kidney disease(ADPKD) is rarely observed in the neonatal period. We report 2 cases of ADPKD who showed bilateral enlarged, hyperechoic kidneys and severe hypertension. It is difficult to differentiate ADPKD from autosomal recessive polycystic kidney disease (ARPKD) based on the initial clinical presentations in this period. In both cases, bilateral enlarged kidneys and severe hypertension were detected without oligohydramnion and respiratory distress. The mother of case 1 has polycystic kidneys. The father of case 2 was diagnosed as ADPKD. Case 2 had heart failure due to hypertension. Angiotensin converting enzyme inhibitor (ACE-I) was administered to both patients and resulted in good control of blood pressure. ADPKD in the neonatal and very early infantile period has diverse clinical courses. In general, although severe cases are rare, some cases have renal failure and/or hypertension as we reported. We emphasize that both the prompt diagnosis of ADPKD and the start of medication are of great importance in the neonatal and very early infantile period. We recommend that neonates and infants with a family history of ADPKD undergo screening including physical examinations, blood pressure measurements and urinalysis.
常染色体显性多囊肾病（ADPKD）在新生儿期很少见。我们报告2例ADPKD患者，其表现为双侧肾脏增大、高回声，并有严重高血压。在此期间，基于初始临床表现很难将ADPKD与常染色体隐性多囊肾病（ARPKD）区分开来。在这两个病例中，均检测到双侧肾脏增大和严重高血压，且无羊水过少和呼吸窘迫。病例1的母亲有多囊肾。病例2的父亲被诊断为ADPKD。病例2因高血压出现心力衰竭。对两名患者均给予血管紧张素转换酶抑制剂（ACE-I）治疗，血压得到良好控制。新生儿期和极早期婴儿期的ADPKD有不同的临床病程。一般来说，虽然严重病例很少见，但如我们所报告的，一些病例会出现肾衰竭和/或高血压。我们强调，在新生儿期和极早期婴儿期，ADPKD的及时诊断和药物治疗的开始都非常重要。我们建议有ADPKD家族史的新生儿和婴儿接受包括体格检查、血压测量和尿液分析在内的筛查。
