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| Lopes,L.B.; Abreu,C.C.; Souza,C.F.; Guimaraes,L.E.R.; Silva,A.A.; Aguiar-Alves,F.; Kidd,K.O.; Kmoch,S.; Bleyer,A.J.; Almeida,J.R.. |
| Autosomal dominant tubulointerstitial kidney disease (ADTKD) is characterized by autosomal dominant inheritance, progressive chronic kidney disease, and a bland urinary sediment. ADTKD is most commonly caused by mutations in the UMOD gene encoding uromodulin (ADTKD-UMOD). We herein report the first confirmed case of a multi-generational Brazilian family with ADTKD-UMOD, caused by a novel heterozygous mutation (c.163G>A, GGC→AGC, p.Gly55Ser) in the UMOD gene. Of 41 family members, 22 underwent genetic analysis, with 11 individuals found to have this mutation. Three affected individuals underwent hemodialysis, one peritoneal dialysis, and one patient received a kidney transplant from a family member later found to be genetically affected. Several younger... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Chronic kidney disease; Uromodulin kidney disease; Genetic mutation; Uromodulin; UMOD; Genetic kidney diseases. |
| Ano: 2018 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2018000300616 |
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| Latronico,A.C.; Costa,E.M.F.; Domenice,S.; Correa,R.V.; Kohek,M.B.F.; Arnhold,I.J.P.; Mendonca,B.B.. |
| Several genes that influence the development and function of the hypothalamic-pituitary-gonadal-axis (HPG) have been identified. These genes encode an array of transcription factors, matrix proteins, hormones, receptors, and enzymes that are expressed at multiple levels of the HPG. We report the experience of a single Endocrinology Unit in the identification and characterization of naturally occurring mutations in families affected by HPG disorders, including forms of precocious puberty, hypogonadism and abnormal sexual development due to impaired gonadotropin function. Eight distinct genes implicated in HPG function were studied: KAL, SF1, DAX1, GnRH, GnRHR, FSHß, FSHR, and LHR. Most mutations identified in our cohort are described for the first time in... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Hypogonadism; Puberty; Gonadotropins; Genetic mutation. |
| Ano: 2004 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2004000100019 |
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| Kosan,C.; Cayir,A.; Turan,M.I.. |
| Familial Mediterranean fever (FMF) is a periodic autoinflammatory disease characterized by chronic inflammation. This study investigated the relationship between acute-phase reactants and gene mutations in attack-free periods of childhood FMF. Patients diagnosed with FMF were divided into four groups based on genetic features: no mutation, homozygous, heterozygous, and compound heterozygous. These groups were monitored for 2 years, and blood samples were collected every 6 months during attack-free periods. Erythrocyte sedimentation rate, C-reactive protein, fibrinogen, and white blood cell count were measured. A disease severity score was determined for each patient. Mean values for erythrocyte sedimentation rate and fibrinogen were significantly different... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Familial Mediterranean fever; Child; Genetic mutation; Acute-phase reactants. |
| Ano: 2013 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2013001000904 |
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