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Abstract：
OBJECTIVE: Löwe syndrome (the oculocerebrorenal syndrome of Löwe, OCRL, OMIM #309000, ORPHA: 534) is a very rare multisystem X-linked disorder characterized by ocular, kidney and nervous system anomalies.
METHODS: We present the first Bulgarian genetically confirmed patient with OCRL. The patient had facial dysmorphism, cryptorchidism, congenital cataracts, nystagmus, delayed physical and mental development, and poor nutritional status. He had severe rickets, metabolic acidosis, hypokalaemia, hypophosphataemia, and low IGF-1 levels at the age of three, in addition to his developmental delay. The molecular-genetic analysis reported a pathogenic variant c.1124A>G, p.H375R in the OCRL gene. This variant was inherited from the mother, who was a carrier. Following the diagnosis of OCRL, treatment with potassium citrate, phosphate, and calcitriol was initiated, along with an increase in caloric intake. Following general physical and biochemical improvement, therapy with rhGH started 4 years ago, and current results are presented.
CONCLUSIONS: The patient with Löwe syndrome who was presented with a 6-year follow-up demonstrates the complexity of rare disease cases and the value of multidisciplinary care together with growth hormone treatment for better results in these patients.
METHODS: We present the first Bulgarian genetically confirmed patient with OCRL. The patient had facial dysmorphism, cryptorchidism, congenital cataracts, nystagmus, delayed physical and mental development, and poor nutritional status. He had severe rickets, metabolic acidosis, hypokalaemia, hypophosphataemia, and low IGF-1 levels at the age of three, in addition to his developmental delay. The molecular-genetic analysis reported a pathogenic variant c.1124A>G, p.H375R in the OCRL gene. This variant was inherited from the mother, who was a carrier. Following the diagnosis of OCRL, treatment with potassium citrate, phosphate, and calcitriol was initiated, along with an increase in caloric intake. Following general physical and biochemical improvement, therapy with rhGH started 4 years ago, and current results are presented.
CONCLUSIONS: The patient with Löwe syndrome who was presented with a 6-year follow-up demonstrates the complexity of rare disease cases and the value of multidisciplinary care together with growth hormone treatment for better results in these patients.
摘要：
目标：Löwe综合征（Löwe的眼脑肾综合征，OCRL,OMIM＃309000，ORPHA：534）是一种非常罕见的多系统X连锁疾病，其特征是眼部，肾脏和神经系统异常.
方法：我们介绍了首例保加利亚基因证实的OCRL患者。病人有面部畸形,隐睾,先天性白内障,眼球震颤,身体和精神发育延迟，和营养不良。他有严重的病,代谢性酸中毒,低钾血症,低磷酸盐血症,三岁时IGF-1水平较低，除了他的发育迟缓.分子遗传学分析报告了一种致病变异c.1144A>G，p.H375R中的OCRL基因。这个变种是从母亲那里遗传下来的,谁是承运人。在OCRL的诊断之后,用柠檬酸钾治疗，磷酸盐,骨化三醇被启动，随着热量摄入的增加。在一般的物理和生化改善之后，rhGH的治疗始于4年前，并介绍了目前的结果。
结论：接受6年随访的Löwe综合征患者证明了罕见疾病病例的复杂性以及多学科护理与生长激素治疗对这些患者更好结果的价值。
方法：我们介绍了首例保加利亚基因证实的OCRL患者。病人有面部畸形,隐睾,先天性白内障,眼球震颤,身体和精神发育延迟，和营养不良。他有严重的病,代谢性酸中毒,低钾血症,低磷酸盐血症,三岁时IGF-1水平较低，除了他的发育迟缓.分子遗传学分析报告了一种致病变异c.1144A>G，p.H375R中的OCRL基因。这个变种是从母亲那里遗传下来的,谁是承运人。在OCRL的诊断之后,用柠檬酸钾治疗，磷酸盐,骨化三醇被启动，随着热量摄入的增加。在一般的物理和生化改善之后，rhGH的治疗始于4年前，并介绍了目前的结果。
结论：接受6年随访的Löwe综合征患者证明了罕见疾病病例的复杂性以及多学科护理与生长激素治疗对这些患者更好结果的价值。
