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1.
Pediatr Nephrol ; 39(6): 1791-1799, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38110662

RESUMO

BACKGROUND: Childhood-onset glomerular disease often requires ongoing treatment and follow-up into adulthood. However, few studies have analyzed the associated impact and distress experienced by patients with this condition during the transition from childhood to adolescence and adulthood. METHODS: At three facilities, we recruited patients who developed idiopathic nephrotic syndrome or IgA nephropathy during childhood and were at least 18 years old at the time of study entry. Among them, a questionnaire-based survey was administered to patients who consented to participate, and the results were analyzed in conjunction with clinical information. RESULTS: Data from a total of 38 patients were analyzed. Of these patients, 15 had idiopathic nephrotic syndrome and 23 had IgA nephropathy. The age of transition from pediatrics to the adult medicine department was correlated with the number of recurrences. Many patients also reported being significantly affected by exercise restrictions and physical decline associated with their diseases and medications. Various impacts, including distress, affected decision-making regarding higher education, with patients engaging in higher education at a significantly higher rate compared with the regional average (66.7% vs. 46.9%, p = 0.028). CONCLUSION: We analyzed the impact of childhood-onset glomerular disease and distress during the transition period from pediatric to adult care. This study highlighted the significant impact of medications and exercise restrictions on patients' decisions regarding higher education. Future prospective studies will be needed to examine patients' distress in more detail and establish management approaches to enhance patient quality of life.


Assuntos
Glomerulonefrite por IGA , Nefrose Lipoide , Síndrome Nefrótica , Transição para Assistência do Adulto , Adulto , Adolescente , Humanos , Criança , Adulto Jovem , Síndrome Nefrótica/tratamento farmacológico , Glomerulonefrite por IGA/tratamento farmacológico , Estudos Prospectivos , Qualidade de Vida
3.
Pediatr Nephrol ; 17(1): 16-9, 2002 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-11793129

RESUMO

We report four patients in a consanguineous family with focal segmental glomerulosclerosis (FSGS), early onset nephrotic syndrome, eventual end-stage renal failure, psychomotor retardation, seizures and microcephaly or brain atrophy without hiatus hernia. Other characteristic dysmorphic features were convergent strabismus and narrow forehead. One patient had enamel hypoplasia of the upper incisors and deviation of bilateral thumbs to palm side. We could not detect an NPHS2 mutation in this family. We propose that this may be another autosomal recessive syndrome with FSGS and neurological findings.


Assuntos
Genes Recessivos , Glomerulosclerose Segmentar e Focal/complicações , Glomerulosclerose Segmentar e Focal/genética , Doenças do Sistema Nervoso/etiologia , Atrofia , Encéfalo/patologia , Pré-Escolar , Feminino , Humanos , Lactente , Peptídeos e Proteínas de Sinalização Intracelular , Falência Renal Crônica/etiologia , Masculino , Proteínas de Membrana/genética , Microcefalia/complicações , Síndrome Nefrótica/etiologia , Doenças do Sistema Nervoso/patologia , Doenças do Sistema Nervoso/fisiopatologia , Linhagem , Desempenho Psicomotor , Convulsões/etiologia
4.
Kidney Int ; 64(6): 2092-9, 2003 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-14633131

RESUMO

BACKGROUND: Mutations of the NPHS2 gene are responsible for autosomal-recessive steroid-resistant nephrotic syndrome. Its product, podocin, faces the slit diaphragm area with its two ends in the cytoplasm of foot processes. METHODS: We generated rabbit polyclonal antibodies against conjugated peptides from human podocin N- and C-termini, and studied podocin and synaptopodin using kidney tissues of normal humans and those with glomerular diseases. RESULTS: Antipodocin antibodies detected the original 42 kD fragment and an extra smaller fragment by Western blot analysis using human isolated mature glomeruli. RNA analysis showed two bands, the original and the other of a decreased length. Immunohistochemically, podocin was detected in a linear pattern along the glomerular capillary loop. Antipodocin antibody (C-terminal) stained the smooth muscles of renal arterioles and aorta. Among 42 patients, podocin was normally expressed in glomeruli in purpura nephritis, IgA nephropathy (IgAN), and minimal-change disease (MCD), while it was either decreased or absent in most subjects with focal segmental glomerulosclerosis (FSGS). The expression of synaptopodin was similar to that of podocin, although some discrepancy existed. CONCLUSION: Although indirect, our data suggest the existence of a vascular isoform of podocin with a different molecular mass. We propose that examination of podocin expression may help differentiate MCD from FSGS.


Assuntos
Nefropatias/metabolismo , Glomérulos Renais , Proteínas de Membrana/metabolismo , Adolescente , Adulto , Aorta/metabolismo , Arteríolas/metabolismo , Western Blotting , Estudos de Casos e Controles , Criança , Pré-Escolar , Feminino , Humanos , Imuno-Histoquímica , Peptídeos e Proteínas de Sinalização Intracelular , Glomérulos Renais/metabolismo , Masculino , Proteínas de Membrana/genética , Pessoa de Meia-Idade , Músculo Liso Vascular/metabolismo , Fragmentos de Peptídeos/genética , Fragmentos de Peptídeos/metabolismo , RNA Mensageiro/metabolismo , Circulação Renal , Distribuição Tecidual
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