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Cistinúria: Revisão da Literatura e Investigação das Suas Bases Genéticas em 4 Doentes
| Content Provider | Semantic Scholar |
|---|---|
| Author | Lopes, Altina Barbosa, Mafalda Mota, Conceição Alves, Sandra Martins, Esmeralda G. Mota, Maria Do Céu Quelhas, Dulce Lacerda, Lúcia Cardoso, M. Luis |
| Copyright Year | 2010 |
| Abstract | Introduction: Classically, based on the phenotype, two types of cystinuria were identifi ed and classifi ed as type I and non -type I. More recently a new classifi cation was proposed based on molecular genetics: cystinuria type A (caused by mutations on SLC3A1 gene), type B (involving mutations on SLC7A9 gene) and type AB if there is a digenic inheritance (SLC3A1 and SLC7A9). Objective and methodology: We reviewed the state of the art on the diagnosis, incidence/prevalence, biochemical classifi cation, genetic data and treatment of cystinuria. Furthermore we characterized four patients with cystinuria at molecular level by sequencing SLC3A1 and SLC7A9 genes. Results: On SLC3A1 we detect fi ve mutations, two of them (c.1597T>A and c.611 -2A>C) are novel and three (c.647C>T; c.1190A>G and c.2019C>G) were been previously reported in literature. Sequencing of SLC7A9 gene showed one (c.614_615insA) previously published mutation. It was possible to classify three type A patients (one homozygote and two compound heterozygotes) and one patient as heterozygous type B, which is consistent with the observed urinary excretion of cystine. Conclusions: Genotypic characterization of patients with cystinuria contributes to the understanding of the pathophysiology, confi rms the clinical and biochemical diagnosis and provides genetic counseling to relatives at risk. The authors underline the need of a multidisciplinary team approach in the follow up of these patients. |
| Starting Page | 244 |
| Ending Page | 250 |
| Page Count | 7 |
| File Format | PDF HTM / HTML |
| Volume Number | 19 |
| Alternate Webpage(s) | http://repositorio.chporto.pt/bitstream/10400.16/1068/1/v19n4a02.pdf |
| Language | English |
| Access Restriction | Open |
| Content Type | Text |
| Resource Type | Article |
