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Lowe syndrome: a single center's experience in Korea
Hyun-Kyung Kim1, Ja Hye Kim1, Yoo-Mi Kim1
1Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.
Korean Journal of Pediatrics
|April 30, 2014
Summary
Lowe syndrome, a genetic disorder affecting multiple systems, presents with congenital cataracts, developmental delay, and renal issues in Korean males. Early diagnosis and understanding its natural course are crucial for management and genetic counseling.
Area of Science:
- Genetics
- Pediatrics
- Ophthalmology
Background:
- Lowe syndrome is a rare X-linked recessive disorder caused by OCRL gene mutations.
- It impacts multiple organ systems, including eyes, CNS, and kidneys, leading to severe growth and developmental issues.
Purpose of the Study:
- To characterize the clinical and genetic features of Korean patients with Lowe syndrome.
- To provide insights into the natural history of the disease in this population.
Main Methods:
- Retrospective review of clinical data and genetic findings.
- Analysis of 12 male patients diagnosed with Lowe syndrome at a single institution.
Main Results:
- OCRL mutations were identified in 92% of patients, including three novel mutations.
- Congenital cataracts, short stature, developmental delay, and proximal renal tubular dysfunction were common.
- Seizures and pathologic fractures occurred in 50% of patients.
Conclusions:
- This study details the clinical and genetic landscape of Lowe syndrome in Korean patients.
- Findings aid in understanding disease progression and inform genetic counseling strategies.
