Searching for mutations in the HNF1B gene in a Brazilian cohort with renal cysts and hyperglycemia

ABSTRACT Objective To verify the presence of variants in HNF1B in a sample of the Brazilian population selected according to the presence of renal cysts associated with hyperglycemia. Subjects and methods We evaluated 28 unrelated patients with clinical suspicion of HNF1B mutation because of the concomitant presence of diabetes mellitus (DM) or prediabetes and renal cysts. Genotyping was accomplished using Sanger sequencing or multiplex ligation-dependent probe amplification (MLPA). In positive cases, available relatives were recruited. Results We found two patients with HNF1B mutations. The first presented the variant p.Pro328Leufs*48(c.983delC) and had DM, renal cysts, and hypomagnesemia. The second presented a heterozygous whole gene deletion in HNF1B, DM, renal cysts, body and tail pancreatic agenesis, and hypomagnesemia; this alteration was also found in his two siblings and his father. Conclusion The recruitment of suspected cases of HNF1B gene mutations in Brazilians due to hyperglycemia and renal cysts presents two positive cases. Our cases contribute to the annotation of clinical and biochemical phenotypes of this rare form of maturity-onset diabetes of the young (MODY).

Phyllanthus niruri as a promising alternative treatment for nephrolithiasis

In spite of considerable efforts to identify effective treatments for urolithiasis, this is a goal yet to be achieved. This review summarizes experimental and clinical data evaluating the effect of the plant Phyllanthus niruri, a plant with worldwide distribution, as a potential agent to prevent and/or to treat urolithiasis The review is based on data from the literature and on the results obtained by our group from either in vivo/in vitro experiments or clinical studies. Phyllanthus niruri has been shown to interfere with many stages of stone formation, reducing crystals aggregation, modifying their structure and composition as well as altering the interaction of the crystals with tubular cells leading to reduced subsequent endocytosis. The clinical beneficial effects of Phyllanthus niruri may be related to ureteral relaxation, helping to eliminate calculi or to clear fragments following lithotripsy, or also to a putative reduction of the excretion of urinary crystallization promoters such as calcium. No adverse renal, cardiovascular, neurological or toxic effects have been detected in either of these studies. Altogether, these studies suggest a preventive effect of Phyllanthus niruri in stone formation or elimination, but still longer-term randomized clinical trials are necessary to confirm its therapeutic properties.

Infecçäo do trato urinário no pós-transplante renal em crianças / Urinary tract infecction after renal transplant in children

O presente estudo teve como objetivo avaliar os aspectos clínicos-laboratoriais e os fatores de risco encolvidos na UTI em crianças transplantadas renais. Fatores de risco relacionados à infecçäodo trato urinário(ITU) no período de pós-transplante renal, tais como:sexo, idade, tipo de doador, doença de base, tempo detratamento dialítico prévio ao transplante e nível deimunossupressäo foram avaliados em 62 crianças. Foramtambém analisados perda do enxerto e funçäo renal após ITU. A ITU foi identificada em 20/62 (32 porcento) dos pacientes, observando-se recorrência em 45 porcento dos casos, 25 porcento dos quais reinfecçöes. Em 84 porcento dos casos, as ITU foram assintomáticas. A bactéria mais frequêntemente isolada foi Escherichia coli, tanto nos 63 porcentodos episódios de ITU domiciliar, quanto nos 37 porcento de ITU hospitalar. As 20 crianças apresentaram 38 episódios de ITU, sendo 60 porcento no período precose (até três meses após-transplante) e 40 porcento no período tardio. Em resumo, os autores abservaram maior frequência de ITU precose no pós-tansplante näo associada a idade, sexo, tipo de doador, tempo prévio em diáis, doença de base e perda da funçä renal. Crianças com ITU näo evoluíram com maior taxa d perda do enxerto em relaçäo ao grupo controle durante o período avaliado (AU>