Frequency and clinical profile of patients with polycystic kidney disease in southern Brazil.

BACKGROUND: Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common genetic nephropathies, affecting one in every 800-1000 individuals in the worldwide general population and 5-10% of hemodialysis patients. Little data concerning the prevalence of ADPKD in Brazil are available. Thus, the aim of the present study was to investigate both the frequency and clinical profile of ADPKD among hemodialysis patients in south of Brazil. METHODS: This cross-sectional study consisted of patients from 24 hemodialysis centers. Patients were screened for ADPKD by clinical, laboratorial, and image examination in medical records. RESULTS: Of 1326 patients on hemodialysis in the south of Brazil that composed this study, 99 (7.5%) had polycystic kidney as primary cause for chronic renal failure. Comparisons between ADPKD and non-ADPKD patients revealed no differences regarding mean age, gender, and ethnicity. CONCLUSIONS: Our data revealed that ADPKD is prevalent among patients on hemodialysis in the south of Brazil. In addition, the clinical profile of ADPKD is similar to reported data from North America and Europe, putatively due to the similar ethnic composition mainly based on European descents.

Fabry disease in hemodialysis patients in southern Brazil: prevalence study and clinical report.

BACKGROUND: Fabry disease (FD) is a lysosomal storage disorder caused by a deficiency of alpha-Galactosidase A (alpha-Gal A). Fabry nephropathy typically progresses throughout the fifth decade to end-stage renal disease (ESRD), requiring hemodialysis and/or kidney transplantation. OBJECTIVE: To estimate the prevalence of FD among ESRD males on hemodialysis treatment in Rio Grande do Sul, the southernmost state of Brazil. METHODS: Screening for alpha-Gal A activity was performed by a dried blood spot (normal reference value: >1.5 nmoles/hour/mL). Positive screening results were confirmed by plasma alpha-Gal A activity assay (reference value: >3.3 nmoles/hour/mL). RESULTS: Five hundred fifty-eight male patients on hemodialysis were evaluated. Of these, only two had low alpha-Gal A activity and were diagnosed with Fabry disease (0.36%). One of these, age 42, had left ventricular hypertrophy and renal manifestations of Fabry disease without the classic symptoms. The other, age 46, had the classical manifestations of angiokeratomas, acroparesthesias, hypohidrosis, and ocular opacities. CONCLUSIONS: Although the prevalence of Fabry disease was very low in our study (0.36%), routine screening of male hemodialysis patients would enable earlier identification of many other affected relatives in their families who might benefit from specific clinical treatment.

Prevalence of 4977bp deletion in mitochondrial DNA from patients with chronic kidney disease receiving conservative treatment or hemodialysis in southern Brazil.

BACKGROUND: Damage to mitochondrial DNA (mtDNA) has been described in patients with chronic kidney disease (CKD). The presence of mtDNA 4977bp deletion in many different tissues can serve as a marker of this damage. However, no attempt has been made to detect the presence of mtDNA 4977bp in blood cells of patients with CKD. METHODS: Polymerase chain reaction techniques (PCR) were used to detect mtDNA 4977bp deletion in blood samples of 94 CKD patients. RESULTS: The prevalence of 4977bp deletion in mtDNA was 73.1% (38/52) in patients with CKD undergoing hemodialysis, 57.1% (27/42) in patients with CKD receiving conservative treatment, and 27.8% (15/54) in control samples (p < 0.001). Higher prevalence of this mutation was not associated with patient age (p = 0.54) or time on hemodialysis (p = 0.70). CONCLUSION: The higher prevalence of mtDNA 4977bp deletion in patients in this study indicates that the CKD can induce damage to mtDNA in blood cells and could be exacerbated by hemodialysis.

Danos moleculares em pacientes urêmicos submetidos à hemodiálise / Molecular damage in uremic patients on hemodialysis

Os efeitos tóxicos decorrentes do estado urêmico e do tratamento através de hemodiálise vêmsendo sugeridos como responsáveis por danos no DNA em pacientes com insuficiência renal crônica.Dessa forma, muitos trabalhos têm desenvolvido marcadores capazes de identificar esses danosatravés da análise cromossômica, teste de micronúcleos, teste do cometa, teste eletroquímico e,mais recentemente, análise do DNA mitocondrial. Considerando que esses danos podem aumentara incidência de câncer, mais estudos devem continuar sendo desenvolvidos nesse sentido.

The toxic effects caused by the uremic state and hemodialysis have been suggested asbeing responsible for DNA damage in patients with chronic renal failure. Thus, many researchershave developed markers capable of identifying these damages using chromosome analysis,micronucleus test, comet assay, electrochemical test and, more recently, mitochondrial DNA analysis.Further studies must be undertaken, since these damages can increase the incidence of cancer.

Genes envolvidos no controle do desenvolvimento inicial do rim / Genes involved in the control of early kidney development

As doenças renais humanas são uns dos maiores problemas de saúde, e vários genes quecontrolam a nefrogênese estão associados com essas doenças. Os principais genes envolvidosno desenvolvimento inicial do rim são PAX2, EYA1, SIX1 E 2, SALL1, FOXC1, WT1, HOX11, e amaioria dos fatores transcricionais desses genes é importante na regulação do gene GDNF. Essesgenes interagem uns com os outros, formando uma espécie de rede genética. O estudo dessasinterações genéticas é essencial para o entendimento das bases moleculares das malformaçõesdo desenvolvimento renal, que é necessário para a prevenção e tratamento dessas desordens.

Renal human diseases are among the leading health problems and many genes that controlnephrogenesis are associated with these diseases. The main genes involved in early kidneydevelopment are PAX2, EYA1, SIX1 and 2, SALL1, FOXC1, WT1, HOX11, and the majority oftheir transcriptional factors are relevant to the regulation of GDNF. Those genes interact with oneanother to create a genetic network. The study of such genetic interactions is crucial forunderstanding the molecular basis of kidney development malformations, which is necessary forthe prevention and treatment of these disorders.

Principais malformações congênitas macroscópicas do trato urinário superior / Major macroscopic congenital malformations of the upper urinary tract

Praticamente um terço de todas as malformações congênitas é encontrado no sistemaurogenital. A grande maioria das anormalidades do trato urinário tem pouco efeito no feto dentro doútero. Mesmo malformações letais para os neonatos não comprometem os fetos, uma vez que aplacenta e a mãe administram a função hidrostática renal. As principais malformações do tratourogenital são: agenesia renal, persistência de lobação fetal, fusão renal ou rim em ferradura,duplicação de ureter, obstrução ureteral ou ectopia dos ureteres, rim supranumerário e rim ectópico.Em termos de clínica médica, as ferramentas mais usadas na investigação das malformações dotrato urinário são os exames de imagem. A identificação desses distúrbios é importante para amanutenção dos pacientes. Esta revisão busca descrever as principais malformações renais,contribuindo para o desenvolvimento da nefrogenética.

Almost 1/3 of all congenital malformations are found in the urogenital tract. Most urinary tractabnormalities have little impact on fetus development. Even newborn lethal malformations do notrepresent a difficulty for the fetus, since the placenta and the mother manage the renal hydrostaticfunction. Major urogenital tract anomalies are renal agenesia, persistent fetal lobation, horseshoekidney, ureteral duplication, ureteral obstruction or ectopic ureter, supernumerary kidney and ectopickidney. Imaging examinations are the most common tools used in the clinical investigation of urinarytract malformations. The identification of these disorders is important for patient maintenance. Thisreview reports the major renal anomalies, thus contributing to the development of nephrogenetics.