Avni Fred E, Guissard Gretel, Hall Michelle, Janssen Françoise, DeMaertelaer Viviane, Rypens Françoise
Department of Paediatric Imaging, Children University Hospital Queen Fabiola ULB, Brussels, Belgium.
Pediatr Radiol. 2002 Mar;32(3):169-74. doi: 10.1007/s00247-001-0624-0.
To determine which US changes occur with time in children affected by autosomal recessive (ARPKD) and autosomal dominant polycystic kidney disease (ADPKD) and whether any of these changes correlate with the onset of renal failure.
We reviewed the US features of 29 patients (16 ARPKD, 13 ADPK) imaged by at least two US examinations. We analysed the size and echogenicity of the kidneys, corticomedullary differentiation (CMD), the presence, location and size of cysts and any other anomaly that developed with time. In order to determine whether a relationship could be found between any of the US changes and the onset of the renal failure (based on a glomerular filtration rate < 50 ml/min per 1.73 m2), a Pearson exact chi-square test was calculated.
For ARPKD, renal size was above 4 standard deviations (SD) in 10 of 16 patients, but it remained stable during evolution (10/16). The kidneys appeared hyperechoic (16/16), without CMD in the majority (11/16) of patients. Changes in the appearance of CMD over time were observed in five patients. Small cysts (< 1 cm) were present at the time of diagnosis in seven patients, larger cysts (> 1 cm) in three. A diffuse microcystic pattern was observed in three patients. Diffuse hyperechoic foci developed in 14 patients--13 of whom had developed renal failure at the time of the examination or rapidly thereafter (statistical correlation P=0.0125). For ADPKD, renal size was between 0-2 SD in 7 of 13 patients and above 2 SD in the other 6. Renal echogenicity was normal in five, difficult to assess in five and the kidneys appeared hyperechoic without CMD in three patients. Cysts larger than 1 cm were present in 8 of 12 patients (> 3 cm in 5). In four patients, the cysts measured less than 1 cm. In the last child, the diagnosis had been made antenatally and the first cysts appeared at the age of 6 months. The size of the kidneys (13/13) and of the cysts (11/13) remained stable. No renal failure occurred.
ARPKD may manifest with various US patterns and there may be evolution in the appearances over time. Our study confirms a significant relationship between the development of diffuse hyperechoic foci and the onset of renal failure. In older children, ARPKD and ADPKD may closely resemble each other. Large (> 3 cm) cysts are the US hallmark for the diagnosis of ADPKD; furthermore, fewer US changes occur with time during childhood in ADPKD.
确定常染色体隐性遗传性多囊肾病（ARPKD）和常染色体显性遗传性多囊肾病（ADPKD）患儿肾脏超声随时间发生的变化，以及这些变化是否与肾衰竭的发生相关。
我们回顾了29例患者（16例ARPKD，13例ADPKD）的超声特征，这些患者均接受了至少两次超声检查。我们分析了肾脏的大小、回声、皮髓质分界（CMD）、囊肿的存在、位置和大小，以及随时间出现的任何其他异常。为了确定超声变化与肾衰竭发生之间是否存在关联（基于肾小球滤过率<50 ml/min per 1.73 m2），我们进行了Pearson精确卡方检验。
对于ARPKD，16例患者中有10例肾脏大小超过4个标准差（SD），但在疾病进展过程中保持稳定（10/16）。多数患者（16/16）肾脏回声增强，多数患者（11/16）无CMD。5例患者观察到CMD随时间的变化。诊断时7例患者存在小囊肿（<1 cm），3例患者存在大囊肿（>1 cm）。3例患者观察到弥漫性微囊肿模式。14例患者出现弥漫性高回声灶——其中13例在检查时或此后不久出现肾衰竭（统计学相关性P = 0.0125）。对于ADPKD，13例患者中有7例肾脏大小在0 - 2个SD之间，另外6例超过2个SD。5例患者肾脏回声正常，难以评估的有5例，3例患者肾脏回声增强且无CMD。12例患者中有8例存在大于1 cm的囊肿（5例大于3 cm）。4例患者囊肿小于1 cm。最后一名患儿在产前确诊，6个月时首次出现囊肿。肾脏大小（13/13）和囊肿大小（11/13）保持稳定。未发生肾衰竭。
ARPKD可能表现为多种超声模式，且外观可能随时间演变。我们的研究证实弥漫性高回声灶的出现与肾衰竭的发生之间存在显著关联。在大龄儿童中，ARPKD和ADPKD可能非常相似。大囊肿（>3 cm）是ADPKD诊断的超声特征；此外，ADPKD患儿在儿童期随时间发生的超声变化较少。
