The choice of dialysis modality was a decision solely of doctors in 76.3% of cases. PD was considered by the health care team as the best modality therapy with regard to quality of life, clinical and psychosocial well-being.

Maturity Onset Diabetes of the Young (MODY) includes a clinically and genetically heterogeneous group of diabetes subtypes with MODY-2 being the second most prevalent form. We report 2 cases of MODY-2 identified during the investigation of asymptomatic hyperglycemia. A 12-year-old girl with a familiar history of diabetes (mother, maternal aunt, and maternal grandfather) was referred due to hypercholesterolemia, abnormal fasting glucose (114 mg/dL), and increased levels of glycated haemoglobin (HbA1c) (6%) presenting with negative β-cell antibodies. A glucokinase (GCK) heterozygous missense mutation c.364C>T (p.Leu122Phe) in exon 4 was identified in the index patient and in the 3 family members. An obese 9-year-old boy was investigated for elevated fasting glycemic levels (99–126 mg/dL), HbA1c rise (6.6%–7.6%), and negative β-cell antibodies. The patient’s father, paternal aunt, and paternal grandfather had a history of diabetes during their childhood. A GCK heterozygous missense mutation c.698G>A (p.Cys233Tyr) in exon 7 was identified in the index patient. This variant was only described in another family strongly affected by both MODY and classic autoimmune mediated diabetes, contrary to our case. MODY-2 should be suspected in the presence of early onset of persistent mild fasting hyperglycemia and negative β-cell antibodies associated with a positive family history of diabetes. These cases illustrate the challenging aspects of MODY diagnosis due to possible phenotypic overlap with other types of diabetes. The diagnosis requires a high level of suspicion and GCK genetic screening should be performed in the presence of compatible features. An early diagnosis allows for appropriate management, genetic counselling, and the identification of affected family members.

OBJETIVO: Descrever o perfil clínico dos candidatos ao programa de transplante de ilhotas da Pontifícia Universidade Católica do Paraná (PUC-PR), em Curitiba. MÉTODOS: O processo de avaliação clínica foi estruturado em etapas: triagem, pré-avaliação, avaliação e lista de espera. Os critérios de inclusão utilizados foram: ocorrência de hipoglicemia assintomática, complicações crônicas progressivas da doença, idade entre 18 e 65 anos e pelo menos cinco anos de doença. RESULTADOS: De setembro de 2003 a setembro de 2006 foram avaliados 92 candidatos, dos quais 25 preencheram os critérios de triagem, sendo selecionados para pré-avaliação. O principal motivo de não qualificação foi o uso de insulina em dose > 0,7 UI/kg/d. Dos 25 candidatos incluídos na pré-avaliação, sete não concordaram em assinar o termo de consentimento. Quatro candidatos completaram todas as etapas de seleção, porém apenas dois permanecem em lista de espera. CONCLUSÕES: Os candidatos ao transplante de ilhotas devem ser rigorosamente selecionados. Dois pacientes preencheram todos os critérios e encontram-se em lista de espera.

No abstract

Type 1 Diabetes Mellitus (T1DM) is one of the most common chronic diseases of childhood and adolescence. The prevalence in younger than 15 years is predicted to rise by 70% from 2005 to 2020. Treatment of T1DM targets euglycemia and hemoglobin A1c (HbA1c) under 7.5%, if achieved without severe episodes of hypoglycemia (International Society for Pediatric and Adolescent Diabetes-ISPAD). It depends on insulin replacement and educational factors. The best metabolic control in both children and adolescents with T1DM is crucial to prevent long-term complications.