ABSTRACT
ABSTRACT MYH9-related disease is an autosomal dominant disorder caused by mutations of the MYH9 gene, which encodes the non-muscle myosin heavy chain IIA on chromosome 22q12. It is characterized by congenital macrothrombocytopenia, bleeding tendency, hearing loss, and cataracts. Nephropathy occurs in approximately 30% of MYH9-related disease in a male patient carrier of a de novo missense mutation in exon 1 of the MYH9 gene [c.287C > T; p.Ser(TCG)96(TTG)Leu]. He presented all phenotypic manifestations of the disease, but cataracts. Renal alterations were microhematuria, nephrotic-range proteinuria (up to 7.5 g/24h), and rapid loss of renal function. The decline per year of the glomerular filtration rate was 20 mL/min/1.73m2 for five years. Blockade of the renin-angiotensin system, the only recommended therapy for slowing the progression of this nephropathy, was prescribed. Although MYH9-related disease is a rare cause of glomerulopathy and end-stage renal disease, awareness of rare genetic kidney disorders is essential to ensure accurate diagnosis and proper management of orphan disease patients.
RESUMO A doença relacionada ao MYH9 é um distúrbio autossômico dominante causado por mutações no gene MYH9 que codifica a cadeia pesada da miosina não muscular IIA no cromossomo 22q12. Ela é caracterizada por macrotrombocitopenia congênita, tendência a sangramento, perda auditiva e catarata. A nefropatia ocorre em aproximadamente 30% dos pacientes. O presente artigo relata o caso de um paciente com doença relacionada ao MYH9 portador de mutação missense de novo no exon 1 do gene MYH9 [c.287C > T; p.Ser(TCG)96(TTG)Leu]. Com a exceção de catarata, o paciente apresentou todas as manifestações fenotípicas da doença. As alterações renais incluíram micro-hematúria, proteinúria nefrótica (até 7,5 g/24h) e perda rápida da função renal. O declínio anual da taxa de filtração glomerular foi de 20 mL/min/1,73 m2 durante cinco anos. Foi receitado bloqueio do sistema renina-angiotensina, a única terapia recomendada para retardar a progressão dessa nefropatia. Embora a doença relacionada ao MYH9 seja uma causa rara de glomerulopatia e doença renal terminal, a conscientização sobre distúrbios genéticos renais raros é essencial para garantir o diagnóstico preciso e o manejo adequado dos pacientes com tal doença órfã.
Subject(s)
Humans , Male , Young Adult , Thrombocytopenia/congenital , Hearing Loss, Sensorineural/complications , Nephrotic Syndrome/etiology , Thrombocytopenia/complications , Thrombocytopenia/diagnosis , Hearing Loss, Sensorineural/diagnosis , Nephrotic Syndrome/diagnosisABSTRACT
MYH9-related disease is an autosomal dominant disorder caused by mutations of the MYH9 gene, which encodes the non-muscle myosin heavy chain IIA on chromosome 22q12. It is characterized by congenital macrothrombocytopenia, bleeding tendency, hearing loss, and cataracts. Nephropathy occurs in approximately 30% of MYH9-related disease in a male patient carrier of a de novo missense mutation in exon 1 of the MYH9 gene [c.287C > T; p.Ser(TCG)96(TTG)Leu]. He presented all phenotypic manifestations of the disease, but cataracts. Renal alterations were microhematuria, nephrotic-range proteinuria (up to 7.5 g/24h), and rapid loss of renal function. The decline per year of the glomerular filtration rate was 20 mL/min/1.73m2 for five years. Blockade of the renin-angiotensin system, the only recommended therapy for slowing the progression of this nephropathy, was prescribed. Although MYH9-related disease is a rare cause of glomerulopathy and end-stage renal disease, awareness of rare genetic kidney disorders is essential to ensure accurate diagnosis and proper management of orphan disease patients.
Subject(s)
Hearing Loss, Sensorineural/complications , Nephrotic Syndrome/etiology , Thrombocytopenia/congenital , Hearing Loss, Sensorineural/diagnosis , Humans , Male , Nephrotic Syndrome/diagnosis , Thrombocytopenia/complications , Thrombocytopenia/diagnosis , Young AdultABSTRACT
The prevalence of kidney stone disease is increasing worldwide with significant health and economic burden. Newer research is finding that stones are associated with several serious morbidities. Yet, few randomized clinical trials or high quality observational studies have assessed whether clinical interventions decrease the recurrence of kidney stones. Therefore, in this review we analyze the available evidence on medical expulsive therapy for ureteral stones; describe the evidence about non-pharmacological stone therapy including dietary modifications and citrus juice-based therapy; and discuss the efficacy of thiazide diuretics for the treatment of hypercalciuria in recurrent nephrolithiasis.
Subject(s)
Kidney Calculi/therapy , Nephrolithiasis/therapy , Humans , Prevalence , Randomized Controlled Trials as Topic , RecurrenceABSTRACT
Resumo A prevalência da nefrolitíase está aumentando em todo o mundo e resulta em ônus significativo para o sistema de saúde. Novos estudos revelam que a formação de cálculos urinários está associada a várias morbidades graves. No entanto, poucos estudos observacionais ou ensaios clínicos randomizados de qualidade demonstraram que intervenções clínicas específicas diminuem a recorrência da nefrolitíase. Portanto, nesta revisão são analisadas as evidências disponíveis da terapia médica expulsiva para cálculos ureterais; avaliam-se os dados da terapêutica não farmacológica, incluindo modificações dietéticas e terapia à base de sucos cítricos; e discute-se a eficácia dos diuréticos tiazídicos no tratamento da hipercalciúria associada à nefrolitíase recorrente.
Abstract The prevalence of kidney stone disease is increasing worldwide with significant health and economic burden. Newer research is finding that stones are associated with several serious morbidities. Yet, few randomized clinical trials or high quality observational studies have assessed whether clinical interventions decrease the recurrence of kidney stones. Therefore, in this review we analyze the available evidence on medical expulsive therapy for ureteral stones; describe the evidence about non-pharmacological stone therapy including dietary modifications and citrus juice-based therapy; and discuss the efficacy of thiazide diuretics for the treatment of hypercalciuria in recurrent nephrolithiasis.
Subject(s)
Humans , Kidney Calculi/therapy , Nephrolithiasis/therapy , Recurrence , Randomized Controlled Trials as Topic , PrevalenceABSTRACT
Left ventricular (LV) dyssynchrony is a known cause of mortality in patients with heart failure and may possibly play a similar role in patients with chronic kidney disease (CKD) in whom sudden death is one of the most common and as yet not fully explained cause of death. LV synchronicity and its relationship with increased volume load and various biomarkers was analyzed in 145 patients including 53 patients with CKD stages 3 and 4 and in 92 CKD stage 5 patients undergoing hemodialysis (HD) or peritoneal dialysis (PD) using color tissue Doppler imaging and tissue synchronization imaging. The HD patients were evaluated both before and after a single HD session. LV dyssynchrony was defined as a regional difference in time to peak systolic myocardial velocity, between 12 LV segments > 105 milliseconds. LV dyssynchrony was present in 54% of the patients with no difference between CKD 3 and 4 (58%), HD (48%), and PD (51%). LV dyssynchrony was independently associated with LV mass index and increased estimation of LV end-diastolic pressure. A single HD session resulted in significant changes in LV synchronicity variables-with improvement in 50% of the patients-especially in patients with higher myocardial systolic velocities and lower LV mass index. Abnormalities in LV synchronicity are highly prevalent in CKD patients already prior to dialysis treatment and are associated with LV hypertrophy, LV dysfunction and load conditions, underlining the importance of volume status for LV synchronicity in CKD patients.
Subject(s)
Kidney Failure, Chronic/physiopathology , Kidney Failure, Chronic/therapy , Ventricular Dysfunction, Left/physiopathology , Echocardiography, Doppler , Female , Humans , Kidney Failure, Chronic/diagnostic imaging , Male , Middle Aged , Peritoneal Dialysis/methods , Ventricular Dysfunction, Left/diagnostic imaging , Ventricular Dysfunction, Left/etiologyABSTRACT
O teste do suor quantitativo com iontoforese pela pilocarpina é considerado sensível e específico para o diagnóstico de Fibrose Cística do pâncreas. No entanto, outras doenças podem cursar com elevaçöes de eletrólitos no suor, provocando confusäo diagnóstica. Apresentamos um paciente de 7 anos de idade, portador de diabetes insipidus resistente ao hormônio anti-diurético, com níveis elevados de sódio no suor (92, 76 e 80 mEql/l), associaçäo já descrita em lactentes.
