RESUMO
Limited data are available on the common genetic mutations causing nephrotic syndrome (NS) in the Saudi pediatric population. We therefore conducted this study to estimate the frequency of genetic mutations in pediatric patients diagnosed with NS. We conducted this retrospective cross-sectional study at a single center in Riyadh, Saudi Arabia. The data of pediatric patients diagnosed with NS from 2015 to 2019 were reviewed. Percentages were calculated for categorical variables such as gender and mutant gene. We identified a total of 206 patients diagnosed with NS during the study. Molecular genetic profiling was performed only for 35 patients who met the inclusion criteria. Female patients represented 42.8% of all cases (n = 15). The median age of the patients at diagnosis was 36 months (interquartile range 12-72). Associated anomalies were recognized in 37.14% of the patients (n = 13). Out of the 35 patients, 19 had positive molecular genetic results. Consanguinity was present in 18 (51.42%) of these patients. The most common homozygous mutation detected was PLCE1 (42.1%; n = 8), followed by NPHS1 (26.32%; n = 5). Heterozygous mutations were detected in three children (15.8%). Complement factor B and WT1 mutations accounted for one patient each and both COL4A5 and INF2 mutations were reported in a single child. Two mutant genes of unknown zygosity - CD151 and COL4A3 were also identified. PLCE1 is a major underlying cause of NS. PLCE1 may cause diffuse mesangial sclerosis in the kidney with early-onset NS and a poor prognosis.
Assuntos
Proteínas de Membrana/genética , Síndrome Nefrótica/genética , Fosfoinositídeo Fosfolipase C/genética , Criança , Pré-Escolar , Estudos Transversais , Feminino , Predisposição Genética para Doença , Humanos , Lactente , Recém-Nascido , Mutação/genética , Síndrome Nefrótica/diagnóstico , Síndrome Nefrótica/epidemiologia , Estudos Retrospectivos , Arábia Saudita/epidemiologiaRESUMO
We aimed in this study to assess the quality of life for kidney-ill patients using Kidney Disease Quality of Life Instrument-SF36 (KDQOL-SF36) and the impact of other demographic, clinical, and social factors on patients' QOL. The quality of life was assessed using an Arabic version of KDQOL-36. The KDQOL-36 subscales Physical Component Summary (PCS), Mental Component Summary (MCS), Burden of Kidney Disease, and Effects of Kidney Disease were calculated. The effect of sex, diabetic status, diabetes mellitus, marital and status employment status, etc. on these subscales was evaluated. Reliability was determined by calculating Cronbach's alpha. A total of 254 patients were enrolled. The mean age was 58.2 (standard deviation 18.2) years; 61% were male, 56.7% diabetic and 20.1% were employed. The mean domain scores on the PCS, MCS, burden of kidney disease, and effects of kidney disease subscales were 49.4, 38.7, 52.6, and 37.2, respectively. Afternoon shift patients score highest among all shifts in MCS and PCS (P = 0.0001). The MCS score (38.7 ± 28.7) was significantly lower than PCS (49.4 ± 16.5) (P = 0.0001). The "effect of kidney disease" subscale was higher in males (P = 0.02), employed patients (P = 0.02), in the afternoon dialysis shift (0.0001). For PCS higher scores were seen in males (P = 0.0001), in non-diabetics (compared to diabetics) (P = 0,006), in the employed patients (P = 0.02). The highest score was seen in the "burden of kidney disease" subscale and the lowest in the "effects of kidney disease" subscale. Higher scores were seen in males, in nondiabetics, in the employed patients.
