Regional Paediatric Nephro-Urology Unit, University Hospital Southampton, Tremona Road, Southampton, SO16 6YD, UK,
Pediatr Nephrol. 2013 Nov;28(11):2217-20. doi: 10.1007/s00467-013-2484-x. Epub 2013 Apr 28.
Dominant polycystic kidney disease is common and usually presents clinically in adulthood. Recessive polycystic kidney disease is much less common and frequently presents antenatally or in the neonatal period with severe renal involvement. These are usually thought of as clinically distinct entities but diagnostic confusion is not infrequent.
CASE-DIAGNOSIS/TREATMENT: We describe an infant with antenatally diagnosed massive renal enlargement and oligohydramnios with no resolvable cysts on ultrasound scanning. He underwent bilateral nephrectomy because of respiratory compromise and poor renal function but died subsequently of overwhelming sepsis. Genetic analysis revealed that he had bilineal inheritance of abnormalities of PKD1 and no demonstrable abnormalities of PKD2 or PKHD1.
Biallelic inheritance of abnormalities of PKD1 may causextremely severe disease resembling autosomal recessive polycystic kidney disease (ARPKD) which can result indiagnostic confusion. Accurate diagnosis is essential forgenetic counseling [corrected].
常染色体显性多囊肾病较为常见，通常在成年期出现临床症状。常染色体隐性多囊肾病则较为少见，常于产前或新生儿期出现，且肾脏严重受累。这些疾病通常被认为是具有明显临床特征的实体疾病，但诊断混淆并不少见。
病例诊断/治疗：我们描述了一名婴儿，其在产前诊断为巨大肾脏肿大和羊水过少，超声扫描未见可消退的囊肿。他因呼吸窘迫和肾功能不佳而接受了双侧肾切除术，但随后因败血症而死亡。基因分析显示，他同时遗传了 PKD1 异常，而 PKD2 或 PKHD1 无明显异常。
PKD1 异常的双等位基因遗传可能导致类似于常染色体隐性多囊肾病（ARPKD）的极严重疾病，这可能导致诊断混淆。准确的诊断对于遗传咨询至关重要。
