Iotova Violeta, Karamfilova Teodora, Levkova Mariya, Gaydarova Mariya, Galcheva Sonya, Bliznakova Dimitrichka
Department of Pediatrics, Medical University Varna, 9000 Varna, Bulgaria.
Department of Medical Genetics, Medical University Varna, 9000 Varna, Bulgaria.
Children (Basel). 2023 Jul 5;10(7):1166. doi: 10.3390/children10071166.
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.
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 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.
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.
洛维综合征（洛维眼脑肾综合征，OCRL，OMIM编号#309000，孤儿病编号：534）是一种非常罕见的多系统X连锁疾病，其特征为眼部、肾脏和神经系统异常。
我们报告了保加利亚首例经基因确诊的OCRL患者。该患者有面部畸形、隐睾、先天性白内障、眼球震颤、身心发育迟缓以及营养状况不佳。除发育迟缓外，他在3岁时还患有严重佝偻病、代谢性酸中毒、低钾血症、低磷血症以及低胰岛素样生长因子-1水平。分子遗传学分析报告在该基因中有一个致病性变异c.1124A>G，p.H375R。此变异遗传自其携带者母亲。确诊OCRL后，开始使用柠檬酸钾、磷酸盐和骨化三醇进行治疗，并增加热量摄入。在全身身体状况和生化指标改善后，4年前开始使用重组人生长激素治疗，本文展示了目前的治疗结果。
该例接受了6年随访的洛维综合征患者表明了罕见病病例的复杂性，以及多学科护理和生长激素治疗对改善这些患者病情的价值。
