| 词条 | Sengers syndrome |
| 释义 |
| name = Senger's syndrome | synonyms = | image = Autosomal recessive - en.svg | caption = Autosomal recessive pattern is the inheritance manner of this condition | pronounce = | field = | symptoms = | complications = | onset = | duration = | types = | causes = Mutations in the AGK and SLC25A4 genes | risks = | diagnosis = | differential = | prevention = | treatment = | medication = | prognosis = | frequency = | deaths = }} Sengers syndrome is a rare autosomal recessive condition characterised by congenital cataract, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise. Signs/symptomsThere are two forms of the disease - a lethal neonatal form and a chronic form. Hypertrophic cardiomyopathy is diagnosed at birth in half. Death in the first year is usually due to cardiac failure. Marked lactic acidemia occurs with even limited muscular exertion. The chronic form have stable cardiomyopathy and myopathy with a normal intellect. Other reported features include nystagmus, strabismus, hypotonia, hyporeflexia and delayed motor development. GeneticsThis disease is caused by mutations in AGK or SLC25A4 genes. The AGK gene encodes the mitochondrial acylglycerol kinase which plays a role in the assembly of adenine nucleotide translocator. The SLC25A4 gene encodes the heart and muscle specific isoform 1 of the mitochondrial adenine nucleotide translocator. EpidemiologySengers syndrome is a rare disorder. About 40 cases have been reported worldwide.{{cn|date=April 2018}} DiagnosisThe diagnosis may be provisionally made on clinical grounds. Further diagnostic tests include serum and urine analysis for lactic acid, a chest X-ray (or cardiac CT or MRI) and echocardiography. Biopsies from cardiac and skeletal muscle will show the presence of lipid and glycogen. testing for mitochondrial abnormalities, ANT deficiency and decreases of respiratory chain complexes I and IV can also be done. Differential diagnosis
TreatmentSurgery for the cataracts may be needed. Medical treatment for the cardiac failure will be required. Treatment is otherwise supportive. PrognosisAbout half the patients die within the first year of life. Because of its rarity the prognosis for the chronic form is not well established but survivial into adulthood has been reported. HistoryThis condition was first described in 1975.[1] References1. ^Sengers RCA, ter Haar, BGA, Trijbels JMF, Willems JL, Daniels O, Stadhouders AM (1975) Congenital cataract and mitochondrial myopathy of skeletal and heart muscle associated with lactic acidosis after exercise. J Pediat 86: 873-880 External links{{Medical resources| DiseasesDB = | ICD10 = | ICD9 = | ICDO = | OMIM = 234580 | MedlinePlus = | eMedicineSubj = | eMedicineTopic = | MeshID = | GeneReviewsNBK = | GeneReviewsName = | Orphanet = }} 3 : Autosomal recessive disorders|Genetic diseases and disorders|Rare syndromes |
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