Thong Kah Mean, Ong Albert C M
Kidney Genetics Group, Academic Nephrology Unit, University of Sheffield Medical School, Sheffield, UK Sheffield Kidney Institute, Sheffield Teaching Hospitals Foundation Trust, Sheffield, UK.
Nephrol Dial Transplant. 2014 Sep;29 Suppl 4:iv121-3. doi: 10.1093/ndt/gfu014.
Intracranial aneurysm rupture is the most serious and potentially lethal extra-renal manifestation of autosomal dominant polycystic kidney disease (ADPKD). Almost all cases of ruptured intracranial aneurysm occur in adult patients with a median age of rupture of 40 years. We report the occurrence of sudden death in a newborn infant born to a mother with typical ADPKD in the first week of life. Post-mortem examination revealed the cause of death to be subarachnoid haemorrhage with focal glomerular and tubular cysts detected in the kidney. This is the earliest reported case of intracranial aneurysm rupture in ADPKD and should raise awareness of this rare but lethal complication in younger patients.
颅内动脉瘤破裂是常染色体显性多囊肾病(ADPKD)最严重且可能致命的肾外表现。几乎所有颅内动脉瘤破裂病例都发生在成年患者中,破裂的中位年龄为40岁。我们报告了一名患有典型ADPKD的母亲所生的新生儿在出生后第一周突然死亡的病例。尸检显示死亡原因是蛛网膜下腔出血,且在肾脏中检测到局灶性肾小球和肾小管囊肿。这是ADPKD中报道最早的颅内动脉瘤破裂病例,应提高对年轻患者中这种罕见但致命并发症的认识。