关键词: Autopsy Chromosomal microarray Polycystic kidney disease

Mesh : Adrenal Gland Diseases / diagnosis Autopsy Cysts / diagnosis Fetus Humans Liver Diseases / diagnosis Polycystic Kidney Diseases / diagnosis Urinary Bladder Diseases / diagnosis

来  源:   DOI:10.1007/s13730-021-00582-1   PDF(Sci-hub)   PDF(Pubmed)

Abstract:
Polycystic kidney disease (PKD) occurs in one per 20,000 births. Presence of cysts in other organs like adrenal, liver and bladder is even rarer. On reviewing the literature, there is evidence of PKD occurring in conjunction with polycystic liver disease but cysts in multiple viscera are, so far, not reported. A fetal autopsy of a 36-week fetus showed the presence of multiple cysts in the kidney, liver, adrenal and bladder. Further histopathology reports confirmed the diagnosis of polycystic kidney disease. The history of a previous intrauterine death, of another child at 28-week gestation, suggests the presence of familial type. Serial prenatal ultrasonogram did not detect the abnormalities, emphasizing the important role of fetal autopsy in a case with an incomplete obstetric history. The diagnosis of a fetal abnormality aids to counselling the parents to be aware of possible recurrences in new pregnancies.
摘要:
多囊肾病(PKD)发生在每20,000名婴儿中。其他器官如肾上腺有囊肿,肝脏和膀胱更罕见。在回顾文献时,有证据表明PKD与多囊肝病同时发生,但多个脏器有囊肿,到目前为止,未报告。36周胎儿的胎儿尸检显示肾脏存在多个囊肿,肝脏,肾上腺和膀胱。进一步的组织病理学报告证实了多囊肾病的诊断。既往宫内死亡史,另一个怀孕28周的孩子,提示家族类型的存在。连续产前超声检查未发现异常,强调胎儿尸检在产科史不完整的病例中的重要作用。胎儿异常的诊断有助于指导父母意识到新怀孕中可能的复发。
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