Ramakrishna Somashekara H, Kasala Mohan B, Perumal Karnan, Malleeswaran Selvakumar, Patcha Rajanikanth V, Varghese Joy
Consultant Pediatric Hepatologist, Gleneagles Global Health City, Perumbakkam, Chennai, India.
Department of Pediatric Intensive Care, Gleneagles Global Health City, Perumbakkam, Chennai, India.
J Clin Exp Hepatol. 2022 Mar-Apr;12(2):672-676. doi: 10.1016/j.jceh.2021.06.022. Epub 2021 Jul 6.
Late-onset liposomal acid lipase deficiency (LAL deficiency), previously known as Cholesteryl ester storage disease (CESD) is a rare genetic lysosomal storage disorder caused by deficiency of lysosomal acid lipase (LAL) due to mutations in the gene. LAL deficiency is a systemic disease that leads to the accumulation of fat and inflammation in the liver, premature atherosclerosis and gastrointestinal disease. Most of the patients require liver transplantation due to decompensated cirrhosis. Enzyme replacement therapy has been approved and is available in many countries. Here we describe a 16-year-old patient who was diagnosed to have late-onset LAL deficiency when he presented to us with ESLD. Subsequently, he underwent a living-donor liver transplant (LDLT) successfully. We discuss the ethical dilemmas in considering LDLT for LAL deficiency.
迟发性溶酶体酸性脂肪酶缺乏症（LAL缺乏症），以前称为胆固醇酯贮积病（CESD），是一种罕见的遗传性溶酶体贮积症，由该基因的突变导致溶酶体酸性脂肪酶（LAL）缺乏引起。LAL缺乏症是一种全身性疾病，会导致肝脏中脂肪堆积和炎症、过早出现动脉粥样硬化以及胃肠道疾病。大多数患者因失代偿性肝硬化需要进行肝移植。酶替代疗法已获批准，在许多国家都可使用。在此，我们描述一名16岁患者，他因终末期肝病（ESLD）前来就诊时被诊断为迟发性LAL缺乏症。随后，他成功接受了活体供肝移植（LDLT）。我们讨论了考虑为LAL缺乏症患者进行LDLT时的伦理困境。
