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Abstract：
BACKGROUND: 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.
METHODS: 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.
CONCLUSIONS: 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.
METHODS: 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.
CONCLUSIONS: 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.
摘要：
背景：胱抑素病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的异常积累导致其功能障碍。最常见的类型是婴儿肾病性胱氨酸病，未经治疗会导致肾衰竭，在引入半胱胺之前是青春期前死亡的原因。
方法：一名27岁的婴儿胱氨酸病女性患者在10岁时发展为终末期肾病。患者父亲的第一次肾移植是在12岁时进行的。6年后，复发性尿路感染导致移植物衰竭。卵巢肿瘤切除右附件后，该患者在19岁时接受了母亲的第二次肾脏移植。移植后,由于药物供应有限,半胱胺治疗不规范.当它在2017年成为常规时，患者不能耐受全剂量。尽管胱氨酸的血液水平升高并切除了右附件，患者于2017年8月自然怀孕。除了复发性尿路感染，整个妊娠期间肾脏参数保持正常.然而,在妊娠的第32周，由于先兆子痫，进行了剖腹产。一个健康的女儿出生了，1400/41，阿普加得分9分。
结论：由于半胱胺和肾移植治疗的可能性，膀胱炎患者的寿命更长,生活质量得到改善.这些女性患者甚至可以自然怀孕并生育健康的孩子。
方法：一名27岁的婴儿胱氨酸病女性患者在10岁时发展为终末期肾病。患者父亲的第一次肾移植是在12岁时进行的。6年后，复发性尿路感染导致移植物衰竭。卵巢肿瘤切除右附件后，该患者在19岁时接受了母亲的第二次肾脏移植。移植后,由于药物供应有限,半胱胺治疗不规范.当它在2017年成为常规时，患者不能耐受全剂量。尽管胱氨酸的血液水平升高并切除了右附件，患者于2017年8月自然怀孕。除了复发性尿路感染，整个妊娠期间肾脏参数保持正常.然而,在妊娠的第32周，由于先兆子痫，进行了剖腹产。一个健康的女儿出生了，1400/41，阿普加得分9分。
结论：由于半胱胺和肾移植治疗的可能性，膀胱炎患者的寿命更长,生活质量得到改善.这些女性患者甚至可以自然怀孕并生育健康的孩子。
