Lowe syndrome: a single center's experience in Korea
PurposeLowe syndrome is a rare, X-linked recessive disorder caused by mutations in the OCRL gene. It involves multiple anatomic systems, particularly the eyes, central nervous system, and kidneys, and leads to profound growth failure and global developmental delay. This study evaluated the clinical...
| Main Authors: | , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Korean Pediatric Society
2014-03-01
|
| Series: | Korean Journal of Pediatrics |
| Subjects: | |
| Online Access: | http://kjp.or.kr/upload/pdf/kjped-57-140.pdf |
| _version_ | 1819073062825361408 |
|---|---|
| author | Hyun-Kyung Kim Ja Hye Kim Yoo-Mi Kim Gu-Hwan Kim Beom Hee Lee Jin-Ho Choi Han-Wook Yoo |
| author_facet | Hyun-Kyung Kim Ja Hye Kim Yoo-Mi Kim Gu-Hwan Kim Beom Hee Lee Jin-Ho Choi Han-Wook Yoo |
| author_sort | Hyun-Kyung Kim |
| collection | DOAJ |
| description | PurposeLowe syndrome is a rare, X-linked recessive disorder caused by mutations in the OCRL gene. It involves multiple anatomic systems, particularly the eyes, central nervous system, and kidneys, and leads to profound growth failure and global developmental delay. This study evaluated the clinical and genetic characteristics of Korean patients with Lowe syndrome.MethodsThe clinical findings and results of genetic studies were reviewed for 12 male patients diagnosed with Lowe syndrome at a single medical institution.ResultsThe mean age of the patients at presentation was 2.2 months (range, 0-4 months), although the diagnosis was delayed by a mean of 2.8 years (range, 0-9.7 years). The mean follow-up period was 9.0 years (range, 0.6-16.7 years). Nine mutations in OCRL were identified in 11 patients (92%), with three novel mutations. The main presentation was congenital cataract in both eyes necessitating early cataract removal in the 11 patients with impaired visual acuity. Profound short stature and developmental delay were observed in all patients, and seizures occurred in 50% of the patients. All patients suffered from proximal renal tubular dysfunction, and one patient developed chronic renal failure. Other manifestations included pathologic fracture (50%), cutaneous cysts (42%), and cryptorchidism (42%). However, there was no bleeding tendency, and none of the patients died during the study period.ConclusionThis study describes the clinical and genetic characteristics of Korean patients with Lowe syndrome. The observations are helpful for understanding the natural courses of Lowe syndrome and for appropriate genetic counseling. |
| first_indexed | 2024-12-21T17:47:39Z |
| format | Article |
| id | doaj.art-13c20ea6f1ac4bd290ccdb0b7cb1a9b0 |
| institution | Directory Open Access Journal |
| issn | 1738-1061 2092-7258 |
| language | English |
| last_indexed | 2024-12-21T17:47:39Z |
| publishDate | 2014-03-01 |
| publisher | Korean Pediatric Society |
| record_format | Article |
| series | Korean Journal of Pediatrics |
| spelling | doaj.art-13c20ea6f1ac4bd290ccdb0b7cb1a9b02022-12-21T18:55:27ZengKorean Pediatric SocietyKorean Journal of Pediatrics1738-10612092-72582014-03-0157314014810.3345/kjp.2014.57.3.1402013600064Lowe syndrome: a single center's experience in KoreaHyun-Kyung Kim0Ja Hye Kim1Yoo-Mi Kim2Gu-Hwan Kim3Beom Hee Lee4Jin-Ho Choi5Han-Wook Yoo6Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.Medical Genetics Center, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.PurposeLowe syndrome is a rare, X-linked recessive disorder caused by mutations in the OCRL gene. It involves multiple anatomic systems, particularly the eyes, central nervous system, and kidneys, and leads to profound growth failure and global developmental delay. This study evaluated the clinical and genetic characteristics of Korean patients with Lowe syndrome.MethodsThe clinical findings and results of genetic studies were reviewed for 12 male patients diagnosed with Lowe syndrome at a single medical institution.ResultsThe mean age of the patients at presentation was 2.2 months (range, 0-4 months), although the diagnosis was delayed by a mean of 2.8 years (range, 0-9.7 years). The mean follow-up period was 9.0 years (range, 0.6-16.7 years). Nine mutations in OCRL were identified in 11 patients (92%), with three novel mutations. The main presentation was congenital cataract in both eyes necessitating early cataract removal in the 11 patients with impaired visual acuity. Profound short stature and developmental delay were observed in all patients, and seizures occurred in 50% of the patients. All patients suffered from proximal renal tubular dysfunction, and one patient developed chronic renal failure. Other manifestations included pathologic fracture (50%), cutaneous cysts (42%), and cryptorchidism (42%). However, there was no bleeding tendency, and none of the patients died during the study period.ConclusionThis study describes the clinical and genetic characteristics of Korean patients with Lowe syndrome. The observations are helpful for understanding the natural courses of Lowe syndrome and for appropriate genetic counseling.http://kjp.or.kr/upload/pdf/kjped-57-140.pdfOculocerebrorenal syndromeCataractDevelopmental disabilitiesAcidosisRenal tubular |
| spellingShingle | Hyun-Kyung Kim Ja Hye Kim Yoo-Mi Kim Gu-Hwan Kim Beom Hee Lee Jin-Ho Choi Han-Wook Yoo Lowe syndrome: a single center's experience in Korea Korean Journal of Pediatrics Oculocerebrorenal syndrome Cataract Developmental disabilities Acidosis Renal tubular |
| title | Lowe syndrome: a single center's experience in Korea |
| title_full | Lowe syndrome: a single center's experience in Korea |
| title_fullStr | Lowe syndrome: a single center's experience in Korea |
| title_full_unstemmed | Lowe syndrome: a single center's experience in Korea |
| title_short | Lowe syndrome: a single center's experience in Korea |
| title_sort | lowe syndrome a single center s experience in korea |
| topic | Oculocerebrorenal syndrome Cataract Developmental disabilities Acidosis Renal tubular |
| url | http://kjp.or.kr/upload/pdf/kjped-57-140.pdf |
| work_keys_str_mv | AT hyunkyungkim lowesyndromeasinglecentersexperienceinkorea AT jahyekim lowesyndromeasinglecentersexperienceinkorea AT yoomikim lowesyndromeasinglecentersexperienceinkorea AT guhwankim lowesyndromeasinglecentersexperienceinkorea AT beomheelee lowesyndromeasinglecentersexperienceinkorea AT jinhochoi lowesyndromeasinglecentersexperienceinkorea AT hanwookyoo lowesyndromeasinglecentersexperienceinkorea |