Kuczborska K, Gozdowska J, Lewandowska D, Grenda R, Gałązka Z, Nazarewski S, Durlik M
Department of Transplantation Medicine, Nephrology and Internal Medicine, Medical University of Warsaw, Warsaw, Poland.
Department of Transplantation Medicine, Nephrology and Internal Medicine, Medical University of Warsaw, Warsaw, Poland.
Transplant Proc. 2019 Mar;51(2):545-547. doi: 10.1016/j.transproceed.2018.12.026. Epub 2019 Jan 3.
Cystinosis is a rare genetic disorder characterized by the abnormal accumulation of cystine in the lysosomes of various tissues and organs leading to their dysfunction. The most common type is the infantile nephropathic cystinosis which without treatment leads to renal failure and before the introduction of cysteamine was the cause of death before puberty.
A 27-year-old female patient with infantile cystinosis developed end-stage renal disease at the age of 10. The first kidney transplantation from patient's father was carried out at the age of 12. The recurrent urinary tract infections led to the graft failure after 6 years. Following the removal of right appendages due to the ovarian tumor, the patient underwent the second kidney transplantation from her mother at the age of 19. After the transplantation, the cysteamine treatment was irregular due to limited availability of the medicine. When it became regular in 2017 the patient did not tolerate full doses. Despite elevated blood levels of cystine and the removal of right appendages, the patient naturally became pregnant in August 2017. Except for recurrent urinary tract infections, the renal parameters remained normal throughout the entire pregnancy. However, in the 32nd week of gestation, due to preeclampsia a caesarean section was performed. A healthy daughter was born, 1400/41 and with a 9 point Apgar score.
Due to the possibility of treatment with cysteamine and kidney transplantations, patients with cystinosis live longer and their quality of life improves. These female patients can even naturally become pregnant and give birth to healthy children.
胱氨酸贮积症是一种罕见的遗传性疾病，其特征是胱氨酸在各种组织和器官的溶酶体中异常蓄积，导致功能障碍。最常见的类型是婴儿型肾病性胱氨酸贮积症，未经治疗会导致肾衰竭，在半胱胺引入之前，是青春期前死亡的原因。
一名27岁患有婴儿型胱氨酸贮积症的女性患者在10岁时发展为终末期肾病。12岁时进行了首次来自患者父亲的肾脏移植。复发性尿路感染导致移植肾在6年后失功。因卵巢肿瘤切除右侧附件后于19岁时接受了来自母亲的第二次肾脏移植。移植后，由于药物供应有限，半胱胺治疗不规律。2017年治疗规律时患者无法耐受全剂量。尽管胱氨酸血水平升高且切除了右侧附件，患者仍于2017年8月自然受孕。整个孕期除复发性尿路感染外，肾脏参数保持正常。然而，在妊娠32周时，因子痫前期行剖宫产。一名健康女婴出生，体重1400克，阿氏评分9分。
由于有半胱胺治疗和肾脏移植的可能性，胱氨酸贮积症患者寿命延长，生活质量提高。这些女性患者甚至可以自然受孕并生下健康的孩子。
