Liver Transplant and Improvements in Cholesterol Biosynthesis Defects: A Case Report of Smith-Lemli-Opitz Syndrome.
Experimental and clinical transplantation : official journal of the Middle East Society for Organ Transplantation, cilt.1, ss.1-4, 2019 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 1
- Basım Tarihi: 2019
- Doi Numarası: 10.6002/ect.2018.0131
- Dergi Adı: Experimental and clinical transplantation : official journal of the Middle East Society for Organ Transplantation
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Sayfa Sayıları: ss.1-4
- Anahtar Kelimeler: Cirrhosis, Metabolic disease, Neurodevelopment, Pediatric transplant, SUPPLEMENTATION, MUTATIONS
- Acıbadem Mehmet Ali Aydınlar Üniversitesi Adresli: Hayır
Özet
Smith-Lemli-Opitz syndrome is an autosomal recessive metabolic disease characterized by mental retardation and multiple congenital anomalies. The main pathology is the lack of the enzyme 3 beta-hydroxysterol Delta 7-reductase, which is the last enzymatic step in cholesterol synthesis, ending with a low cholesterol level. Cholesterol is vitally important in cell membranes and myelination of the nervous system. The cholesterol level affects many systems of the body, especially the nervous system. The cause of liver involvement in Smith-Lemli-Opitz syndrome is unclear, and many hypotheses have been suggested. Here, we present the early results of a patient with Smith-Lemli-Opitz syndrome who underwent living-donor liver transplant due to cirrhosis. As a result of liver transplant, normal cholesterol levels were shown, as well as improvements in the patient's neurodevelopment and behavior. Early liver transplant may be considered for patients with a defect of cholesterol biosynthesis, even in the absence of cirrhosis, and may be a future treatment option to prevent risks of neurologic deterioration.