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Objective: To describe and explore the clinical characteristics and associated factors of growth in children after kidney transplantation (KT). Method: Retrospective study was performed on the clinical data of 111 children who underwent allogeneic KT and met the inclusion criteria (provided by Guangzhou Women and Children’s Medical Center and the Sun Yat-sen University First Affiliated Hospital). Catch-up growth was defined as present if the increment of height standard deviation score (∆Ht-SDS) was ≥0.5 per year. Described the clinical characteristics and compared possible associated factors between children with catch-up growth and no catch-up growth groups. Result: The median age at KT was 9(6,12) years, and 54.1% (60/111) are females. Mean height-SDS before KT was -2.14±1.29, 55.9% (62/111) showed growth retardation. Catch-up growth within the first years post-KT was present in 47.7% (53/111) recipients, the mean ∆Ht-SDS was 0.53±0.71. The Ht-SDS before KT was positively associated with last follow-up Ht-SDS (R=0.78, P<0.001). The baseline Ht-SDS, transplantation age, serum creatinine, and GC dose were significantly lower in the chase group (all P≤0.05), multivariate logistic regression analysis indicated that lower baseline Ht-SDS and serum creatinine were the protect factors for catch-up growth on the 1st year of post-transplantation (OR=0.62, 0.97, respectively, P<0.05). The last follow-up Ht-SDS affected by baseline Ht-SDS and ∆Ht-SDS. HtSDS was no statistical difference among different age groups (patient age at KT: <6years,6-9 years,9-12years,>12years), but ∆Ht-SDS showed significant difference between groups (0.74±0.80, 0.82±0.73, 0.28±0.67, 0.32±0.47, respectively, P<0.05). Younger Children showed significant catch-up rate after KT(<9years:68%,>9years:31%), however the ∆Ht-SDS was decrease in the second year (P<0.05). Conclusion: Growth assessment and management should be performed in any pediatric KT recipients. Even in younger children with more catch-up potential, ∆Ht-SDS decreased significantly at second year, growth continues to be suboptimal after KT. Given that baseline ∆Ht-SDS is a significantly associated factor, it is important for children with severe growth retardation need early identification and plan interventions in terms of growth improvement. We expected the children recipients achieved the ideal target height of post-transplantation.

IntroductionThis study aimed to analyze the clinical characteristics of nephropathy associated with WT1 gene mutations in Chinese children and explore the relationship between genotype and clinical phenotype.MethodsCases diagnosed at the Guangzhou Women and Children's Medical Center, were combined with those retrieved from PubMed and China National Knowledge Infrastructure (CNKI) databases from January 2015 to June 2022 and integrated into a study cohort; grouped according to gene mutation sites, clinical phenotype, and renal pathological types. The clinical characteristics between groups were compared, and the relationship between genotype and age of onset, clinical phenotype, and pathological type were retrospectively analyzed.ResultsThe center enrolled 15 confirmed children: seven cases of non-simple nephropathy, including Denys-Drash syndrome (DDS) and Frasier syndrome (FS); eight cases of isolated steroid-resistant nephrotic syndrome (ISRNS); and 13 cases (86.7%) that progressed to end-stage renal disease (ESRD). The initial hemoglobin and bicarbonate levels of patients with clinical non-simple nephropathy were significantly lower than those with simple nephropathy, whereas the serum creatinine levels were higher than those of patients with simple nephropathy. A total of 75 cases of nephropathy associated with WT1 mutations in the study cohort met the inclusion and exclusion criteria. The most common clinical manifestations of WT1 mutations in this cohort were DDS (29/75, 38.7%) and ISRNS (37/75, 49.3%). A renal biopsy was performed in 43 patients, and the common types of renal pathology were focal segmental glomerulosclerosis (23/43, 53.5%) and DMS (13/43, 30.2%). Within the cohort, there were 12 cases (16.0%) in the exon 8 mutation group, 32 (42.6%) in the exon 9 group, 19 (25.3%) in the intron 9 group, and 12 (16.0%) in other gene site mutation groups. Common sites of WT1 mutations in Chinese children were exons 9 and intron 9. Exon 8 mutations were uniquely correlated with the age of onset within three months [5/7; 71.4%; Adjusted standardized residual (AR) = 4.2]. The renal survival time in the exon 8 mutation group was the shortest (P = 0.003).DiscussionThe molecular and biological characteristics of WT1 mutation-related nephropathy determine the clinical type, pathological features, and renal survival time of the disease; and there was a strong correlation between the genotype and clinical phenotype.