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).

A dor é o sintoma mais comum relatado pelos pacientes com doença renal policística autossômica dominante (DRPAD), acometendo aproximadamente 60% dos casos, e podendo resultar de hemorragia renal, cálculos, infecções do trato urinário, ruptura do cisto, ou devido ao estiramento da cápsula ou à tração do pedículo renal. Recentemente, investigamos padrões de dor em pacientes com DRPAD usando uma versão traduzida de um questionário de dor específico para a população com DRPAD. O questionário revelou que 67% dos pacientes com DRPAD apresentaram algum tipo de dor. As conclusões do estudo enfatizaram que a dor apareceu no início do curso de ADPKD, quando os pacientes ainda exibiam função renal preservada. O presente estudo, através de uma análise de regressão múltipla, revelou que o volume renal (risco nove vezes maior) e a nefrolitíase (risco quatro vezes maior) foram os fatores determinantes mais importantes para a dor em pacientes com DRPAD com função renal preservada, após ajustes para a presença de hipertensão arterial e duração da doença.

Pain is the most common symptom reported by ADPKD patients, afflicting approximately 60% of cases and may result from renal hemorrhage, calculi, urinary tract infections, cyst rupture, or due to stretching of the capsule or traction of the renal pedicle. We have recently investigated pain patterns in AD-PKD patients using a translated version of a pain questionnaire specific for AD-PKD population. The questionnaire revealed that 67% patients with ADPKD exhibited some type of pain. The findings of that study emphasized that pain appeared early in the course of ADPKD, when patients still exhibited preserved renal function. In the present study, a multivariate logistic regression analysis disclosed that renal volume (9-fold increased risk) and nephrolithiasis (4-fold increased risk) were the most important determinant factors for pain in ADPKD patients with preserved renal function, after adjustments for the presence of hypertension and duration of the disease.

INTRODUÇÃO: Aspectos psicológicos, transtornos psiquiátricos e qualidade de vida são frequentemente avaliados em pacientes em terapia renal substitutiva. Entretanto, não existem estudos que analisem ansiedade, depressão e qualidade de vida especificamente em pacientes portadores de doenças renais familiares. OBJETIVO: Avaliar a frequência de traços e estados ansiosos e depressivos e qualidade de vida, verificando as possíveis relações com os principais achados laboratoriais, clínicos, socioeconômicos e culturais de pacientes portadores de glomerulonefrites (GN) familiares ou de doença renal policística autossômica dominante (DRPAD). MÉTODOS: Noventa pacientes adultos (52 GN familiares e 38 DRPAD) foram avaliados utilizando Inventário de Ansiedade Traço-Estado (IDATE), Inventário de Depressão Beck (Beck) e Questionário de Qualidade de Vida Short Form-36 (SF-36), além de uma breve entrevista. RESULTADOS: Observou-se ansiedade moderada em ambos os grupos, depressão em 34,6% das GN e em 60,5% das DRPAD. De um modo geral, ansiedade e depressão associaram-se mais ao gênero feminino na GN familiar e ao pior nível educacional na DRPAD. Pacientes de ambos os grupos apresentaram duas dimensões mais afetadas no que se refere à qualidade de vida, o aspecto emocional e a percepção geral do estado de saúde. Além disso, o SF-36 revelou que na presente amostra, a qualidade de vida foi pior para o sexo feminino, e para pacientes de cor branca, com baixa escolaridade e sem parceiros estáveis. CONCLUSÃO: Os questionários aplicados permitiram identificar frequência e graus de ansiedade, depressão e comprometimento da qualidade de vida nos pacientes com doença renal familiar, que poderiam afetar a aderência desses pacientes ao tratamento. Esses achados podem contribuir para o planejamento de um melhor atendimento multidisciplinar para ambas as doenças.

INTRODUCTION: Psychological aspects and quality of life are often evaluated in patients under renal replacement therapy, but studies about anxiety, de>pression, and quality of life in familial renal diseases are lacking. OBJECTIVES: To evaluate the frequency of anxiety, depression, and quality of life (QOL) and their eventual associations with the main laboratory, clinical, socioeconomic, and cultural parameters in familial glomerulonephritis (GN) or autosomal dominant polycystic kidney disease (ADPKD). METHODS: Ninety adult patients (52 familial GN and 38 ADPKD) completed the questionaires of State Trait Anxiety Inventory (STAI), Beck Depression Inventory (BDI), and QOL-Short-Form SF-36, and were also submitted to a short interview. RESULTS: Moderate anxiety was detected in both groups. Depression was found in 34.6% of familial GN and 60.5% of ADPKD patients. Anxiety and depression were more associated with female gender in familial GN, and with poorer schooling in ADPKD. Patients of both groups presented two quality of life unfavorable dimensions: emotional role function and general health perception. In addition, quality of life was worse among females, unmarried, and Caucasian subjects, and those individuals with a poorer educational level. CONCLUSION: The use of these instruments allows one to appreciate the frequency and levels of anxiety, depression, and quality of life in patients with familial renal diseases that could affect their compliance to treatment. These findings can contribute to planning a better multidisciplinary assistance to such groups of patients.

INTRODUÇÃO: A dor é um sintoma comum em pacientes com doença renal policística autossômica dominante (DRPAD), acometendo em torno de 60% dos casos. OBJETIVO: Traduzir para o português, realizar a adaptação cultural e aplicar um questionário específico de dor, desenvolvido e já validado para população americana com DRPAD. PACIENTES E MÉTODO: Realizada por uma equipe multidisciplinar a partir da versão original traduzida, a adaptação cultural implicou em poucas alterações como substituição de palavras por sinônimos ou supressão de termos não comumente utilizados em nossa cultura. Foram feitas modificações em 12 das 46 questões propostas, visando melhor compreensão pelos pacientes. Houve equivalência entre esta adaptação e a posterior retrotradução. RESULTADOS: A forma final do questionário, aplicada em 97 pacientes com DRPAD (64F/33M, 35 ± 12 anos) acompanhados no Ambulatório de Rins Policísticos da Universidade Federal de São Paulo, mostrou que 65 (67%) apresentavam dores isoladas ou associadas em várias localizações, mais frequentemente lombar (77%), seguida de abdominal (66%), cefaleia (15%) e torácica (4%). O questionário revelou que depois do antecedente familiar, a dor foi o segundo fator a contribuir para o diagnóstico de DRPAD nesta população (55% e 22% dos casos, respectivamente). DISCUSSÃO: Dados clínicos e laboratoriais dos prontuários médicos mostraram que pacientes com dor apresentavam volume renal e tamanho do maior cisto significantemente maiores do que os sem dor. CONCLUSÕES: Concluimos que a utilização de um questionário de dor especifico para população com DRPAD propiciou melhor caracterização deste sintoma, assim como sua relação com as complicações associadas que ocorrem comumente nesta população.

INTRODUCTION: Pain is a common symptom in patients with autosomal dominant polycystic kidney disease (ADPKD), affecting around 60% of cases. OBJECTIVE: Translate a pain questionnaire developed and validated for ADPKD in USA into Portuguese and to perform its cultural adaptation and apply it. METHOD: The cultural adaptation performed by a panel of experts resulted in small changes consisting of words substitution by synonyms or deletion of terms not commonly used in our culture in 12 out of the 46 questions posed, to solve patients difficulties in understanding the questionnaire. RESULTS: There has been equivalence between the adapted form of the instrument with the back-translation. The final form of the questionnaire applied in 97 patients with ADPKD (64F/33M, 35 ± 12 years) showed that 65 (67%) had isolated or associated pain in multiple locations , more often at lumbar region (77%), followed by abdominal (66%), headache (15%) and chest (4%). The questionnaire revealed that after family history, pain was the second factor contributing to the diagnosis of ADPKD in this population (55% and 22% of cases, respectively). DISCUSSION: Clinical and laboratory data from medical records showed that patients referring pain had renal volume and size of the largest cyst significantly higher than those without pain. CONCLUSION: We conclude that the use of a specific pain questionnaire for ADPKD population provided a better characterization of this symptom, as well as its relationship with the associated complications that commonly occur in this setting.

OBJECTIVES: To evaluate the importance of providing guidelines to patients via active telephone calls for blood pressure control and for preventing the discontinuation of treatment among hypertensive patients. INTRODUCTION: Many reasons exist for non-adherence to medical regimens, and one of the strategies employed to improve treatment compliance is the use of active telephone calls. METHODS: Hypertensive patients (n=354) who could receive telephone calls to remind them of their medical appointments and receive instruction about hypertension were distributed into two groups: a) "uncomplicated" - hypertensive patients with no other concurrent diseases and b) "complicated" - severe hypertensive patients (mean diastolic >110 mmHg with or without medication) or patients with comorbidities. All patients, except those excluded (n=44), were open-block randomized to follow two treatment regimens ("traditional" or "current") and to receive or not receive telephone calls ("phone calls" and "no phone calls" groups, respectively). RESULTS: Significantly fewer patients in the "phone calls" group discontinued treatment compared to those in the "no phone calls" group (4 vs. 30; p<0.0094). There was no difference in the percentage of patients with controlled blood pressure in the "phone calls" group and "no phone calls" group or in the "traditional" and "current" groups. The percentage of patients with controlled blood pressure (<140/90 mmHg) was increased at the end of the treatment (74%), reaching 80% in the "uncomplicated" group and 67% in the "complicated" group (p<0.000001). CONCLUSION: Guidance to patients via active telephone calls is an efficient strategy for preventing the discontinuation of antihypertensive treatment.