RESUMO
Multicentric carpotarsal osteolysis syndrome (MCTO) is a rare skeletal disorder characterized by progressive osteolysis involving the carpal and tarsal bones, and often associated with nephropathy. It is caused by heterozygous mutation in the MAF bZIP transcription factor B (MAFB) gene. Heterogeneous clinical manifestation and wide spectrum of disease severity have been observed in patients with MCTO. Here, we report a case of a male patient who presented with kidney failure in childhood with progressive disabling skeletal deformity. He was diagnosed with MCTO at 31-years-old, where a de novo pathogenic heterozygous variant in NM_005461.5:c.212C>A: p.(Pro71His) of the MAFB gene was identified. While there has been little data on the long-term prognosis and life expectancy of this disease, this case report sheds light on the debilitating disease course with multiple significant morbidities of a patient with MCTO throughout his lifetime of 33 years.
Assuntos
Fator de Transcrição MafB , Osteólise , Humanos , Masculino , Osteólise/genética , Osteólise/patologia , Fator de Transcrição MafB/genética , Adulto , Mutação/genética , Ossos do Tarso/patologia , Ossos do Tarso/anormalidades , Ossos do Carpo/anormalidades , Ossos do Carpo/patologia , Heterozigoto , FenótipoRESUMO
Acquired cystic kidney disease (ACKD) can occur in patients with chronic kidney disease and kidney failure, and its incidence increases with the duration of dialysis. In adults, ACKD is less common in the pre-dialysis group (~ 7%), but its incidence can be as high as 80% for those who are on dialysis for more than ten years. There is, however, very little information about the prevalence of ACKD in children. We report a case of malignant transformation of ACKD following a kidney transplant, highlighting the importance of surveillance of the native kidneys in paediatric patients who have been in long-term kidney replacement therapy.
Assuntos
Carcinoma de Células Renais , Achados Incidentais , Doenças Renais Císticas , Neoplasias Renais , Transplante de Rim , Humanos , Doenças Renais Císticas/diagnóstico , Doenças Renais Císticas/complicações , Doenças Renais Císticas/etiologia , Neoplasias Renais/complicações , Neoplasias Renais/diagnóstico , Neoplasias Renais/etiologia , Transplante de Rim/efeitos adversos , Adolescente , Carcinoma de Células Renais/complicações , Carcinoma de Células Renais/diagnóstico , Carcinoma de Células Renais/cirurgia , Masculino , Falência Renal Crônica/terapia , Falência Renal Crônica/complicações , Falência Renal Crônica/etiologia , FemininoRESUMO
Lupus nephritis is an important manifestation of systemic lupus erythematosus, which leads to chronic kidney disease, kidney failure, and can result in mortality. About 35%-60% of children with systemic lupus erythematosus develop kidney involvement. Over the past few decades, the outcome of patients with lupus nephritis has improved significantly with advances in immunosuppressive therapies and clinical management. Nonetheless, there is a paucity of high-level evidence to guide the management of childhood-onset lupus nephritis, because of the relatively small number of patients at each centre and also because children and adolescents are often excluded from clinical trials. Children and adults differ in more ways than just size, and there are remarkable differences between childhood- and adult-onset lupus nephritis in terms of disease severity, treatment efficacy, tolerance to medications and most importantly, psychosocial perspective. In this article, we review the 'art and science' of managing childhood-onset lupus nephritis, which has evolved in recent years, and highlight special considerations in this specific patient population.