Risk factors analysis of protein energy wasting in children with chronic kidney disease / 中华儿科杂志

Objective: To analyze the clinical characteristics and risk factors of protein energy wasting (PEW) in children with chronic kidney disease (CKD). Methods: Clinical data of 231 children with chronic kidney disease hospitalized in Beijing Children's Hospital affiliated to Capital Medical University from January 2018 to January 2023 were retrospectively analyzed to explore the incidence of PEW. According to the diagnostic criteria of CKDPEW, they were divided into a CKDPEW group and a non PEW group. The comparison between the groups was performed by independent-sample t test and Chi-squared test, and the risk factors were analyzed by multivariate Logistic regression. Results: Among the 231 children, there were 138 males and 93 females, with a visiting age of 9.9 (7.9, 16.0) years; 6 cases were in stage 1, 14 cases in stage 2, 51 cases in stage 3, 36 cases in stage 4, and 124 cases in stage 5. A total of 30 children (13.0%) with CKD PEW were diagnosed at the age of 7. 1 (3.8, 13.2) years, including 1 case in stage 1, 1 case in stage 2, 5 cases in stage 3, 5 cases in stage 4, and 18 cases in stage 5. There were a total of 201 cases (87.0%) in the non PEW group, diagnosed at the age of 11.8 (8.5, 12.2) years, including 5 cases in stage 1, 13 cases in stage 2, 46 cases in stage 3, 31 cases in stage 4, and 106 cases in stage 5. The Chi-squared test and t test showed that the systolic blood pressure, diastolic blood pressure, birth weight and carbon dioxide binding capacity of the CKD PEW group were lower than those of the non PEW group ((109±22) vs. (120±20) mmHg (1 mmHg=0.133 kPa), (72±19) vs. (79±16) mmHg, (2.9±0.5) vs. (3.2±0.6) kg, (17±4) vs. (19±4) mmol/L,t=2.85, 2.14, 0.67, 2.63, all P<0.05). Multivariate logistic regression analysis showed that carbon dioxide binding capacity and birth weight were independent protective factors of CKDPEW in children (OR=0.81 and 0.36, 95%CI=0.73-0.90 and 0.17-0.77, respectively; both P<0.01); the risk of PEW in CKD children decreased by 0.187 times for every 1 mmol/L increment in carbon dioxide binding capacity, and 0.638 times for every 1 kg increment in birth weight. Conclusions: The incidence of protein energy expenditure in children with chronic kidney disease is lower than that in the previous researches. PEW can appear in CKD 1-2 stage, and attention should be paid to it in the early stage of CKD in clinical practice. Low birth weight CKD children are susceptible to PEW, and actively correcting metabolic acidosis can reduce the risk of CKDPEW.

An assessment of nutritional status in children on maintenance hemodialysis due to stage 5 chronic kidney disease / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To investigate the nutritional status of children on maintenance hemodialysis due to stage 5 chronic kidney disease (CKD) and the clinical significance of nutritional assessment indices.</p><p><b>METHODS</b>A total of 21 children on maintenance hemodialysis due to stage 5 CKD were grouped according to body mass index. The nutritional status was assessed based on anthropometric parameters, biochemical parameters, inflammatory factors, residual renal function, indices of dialysis adequacy, and resting energy expenditure. Related indices were compared between the children with malnutrition and those with normal nutritional status.</p><p><b>RESULTS</b>Of the 21 children, 10 had malnutrition and 11 had normal nutritional status. There were significant differences between the two groups in anthropometric parameters, levels of leptin, insulin-like growth factor-1, interleukin-1, interleukin-6, and tumor necrosis factor-α, and mean 24-hour residual urine volume (P<0.05), while there were no significant differences in albumin, prealbumin, CONCLUSIONS: urea clearance index (Kt/V), and measured resting energy expenditure.</p><p><b>CONCLUSIONS</b>Anthropometric parameters, biochemical parameters, residual renal function, and inflammatory factors have an important value in evaluating the nutritional status of children with stage 5 CKD on maintenance hemodialysis. Further studies are needed to investigate the value of the measurement of resting energy expenditure in the evaluation and monitoring of nutritional status in children with stage 5 CKD on maintenance hemodialysis.</p>

Identification and analysis of mutations in WTX and WT1 genes in peripheral blood and tumor tissue of children with Wilms' tumor / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Wilms' tumor (nephroblastoma) is the most common pediatric kidney cancer. Only one Wilms' tumor gene is known, WT1 at 11p13, which is mutated in 5% - 10% of Wilms' tumors. Recently, mutations were reported in WTX at Xq11.1 in Wilms' tumors. This study investigated the mutation proportion, type, and distribution in WTX and WT1 in children with Wilms' tumor. The role of WTX/WT1 in the development of Wilms' tumor, and the relationship between clinical phenotype and genotype, were also studied.</p><p><b>METHODS</b>Wilms' tumor specimens (blood samples from 70 patients and tumor tissue samples from 52 patients) were used. A long fragment of WTX and 10 exons and intron sequences of WT1 were amplified by polymerase chain reaction (PCR) from extracted genomic DNA and sequenced. A chi-square test compared the difference between the WTX mutation group and the no mutation group. The relationship between the mutations and clinical phenotype was analyzed.</p><p><b>RESULTS</b>WTX mutations were found in 5/52 tumor tissues and in 2/70 peripheral blood samples (five cases in total, all point mutations). Two patients had a WTX mutation in both samples. WT1 mutations were found in 2/52 tumor tissues and in 4/70 peripheral blood samples (five cases in total, all point mutations). One patient had a WT1 mutation in both samples. Ten cases had WTX or WT1 mutation (19.2% of Wilms' tumors). No overlapping WTX and WT1 mutations were found. No significant differences in clinical parameters were found between patients with and without a WTX mutation.</p><p><b>CONCLUSIONS</b>WTX mutations occur early in Wilms' tumor development, but at a low proportion. There was no evidence that WTX is the main cause of Wilms' tumor. Clinical parameters of patients with WTX mutations are not related to the mutation, indicating a limited impact of WTX on tumor progression. WTX and WT1 mutations occur independently, suggesting a relationship between their gene products.</p>

Four new cases with WT1 gene mutations in Chinese patients with Wilms' tumor / 中华儿科杂志

<p><b>OBJECTIVE</b>Wilms' tumor (WT) is the most common malignant renal tumor in childhood. The WT1 gene located at 11p13 was identified in 1990 as a tumor suppressor gene important in the development in WT. The WT1 gene consists of 10 exons, with exons 1 to 6 encoding an N-terminal proline- and glutamine-rich transactivational domain, and exons 7 to 10 encoding a C-terminal zinc-finger domain involved in DNA binding. In China we know little about the frequency and genotype of WT1 mutations in Chinese WT patients. This study aimed to determine the frequency and genotype of WT1 mutations in children with nonsyndromic WT in China.</p><p><b>METHODS</b>We collected peripheral blood of WT patients treated in Beijing Children's Hospital. Genomic DNA of 54 WT patients was isolated from blood samples. All coding WT1 exons and their flanking intronic sequences were amplified by PCR method. The amplified PCR products from all individuals were then subjected to automatic DNA sequencing.</p><p><b>RESULTS</b>Four different constitutional WT1 mutations were identified in four children. Three mutations are predicted to produce truncated protein. One mutation is missense. Of the four mutations, three had not been reported before. Patient 1 had a 1006 A > T transition in exon 7, which caused (336)Lys to become a stop codon (K336X). DNA sequence analyses in patient 2 indicated the point mutations in exon 9 which was a 1168 C > T substitution and caused (390)Arg to become a stop codon (R390X). It indicated a point mutations in exon 6 in patient 3 which was a 814 G > T substitution and resulted in (272)Glu to become a stop codon (E272X). In patient 4 there was a homozygous mutation in exon 10. The mutation was a 1228 A > G substitution and resulted in (410)Ser to become a Gly codon (S410G).</p><p><b>CONCLUSION</b>Constitutional WT1 mutations occur at a low frequency (7.4%) in Chinese patients with Wilms' Tumor. It is similar to the results of overseas study. Four WT1 gene mutations were confirmed, three were nonsense, one was missense.</p>

Diagnosis and treatment of melamine-associated urinary calculus complicated with acute renal failure in infants and young children / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Infants in some areas of China developed urinary lithiasis after being fed with powdered milk that was tainted with melamine in 2008 and very small proportion of the infants developed acute renal failure caused by urinary tract calculus obstruction. The aim of this article was to summarize clinical characteristics, diagnosis and treatment of infants with urinary calculus and acute renal failure developed after being fed with melamine tainted formula milk.</p><p><b>METHODS</b>Data of infant patients with urinary calculus and acute renal failure due to melamine tainted formula milk admitted to the Beijing Children's Hospital Affiliated to the Capital Medical University and the Xuzhou Children's Hospital in 2008 were used to analyze the epidemiological characteristics, clinical manifestations, imaging features as well as effects of 4 types of therapies.</p><p><b>RESULTS</b>All the 34 infants with urinary calculus were complicated with acute renal failure, their blood urea nitrogen (BUN) was (24.1+/-8.2) mmol/L and creatinine (Cr) was (384.2+/-201.2) micromol/L. The chemical analysis on the urinary calculus sampled from 15 of the infants showed that the calculus contained melamine and acidum uricum. The time needed for the four types of therapies for returning Cr to normal was (3.5+/-1.9) days for cystoscopy group, (2.7+/-1.1) days for lithotomy group, (3.8+/-2.3) days for dialysis group, and (2.7+/-1.6) days for medical treatment group, which had no statistically significant difference (P=0.508). Renal failure of all the 34 infants was relieved within 1 to 7 days, averaging (3.00+/-1.78) days.</p><p><b>CONCLUSIONS</b>Melamine tainted formula milk may cause urinary calculus and obstructive acute renal failure. It is suggested that firstly the patients with urinary calculus complicated with acute renal failure should be treated with dialysis or medication to correct electrolyte disturbance, in particular hyperkalemia, and then relieve the obstruction with available medical and surgical methods as soon as possible. It was observed that the short-term prognosis was satisfactory.</p>

Melamine related urinary calculus and acute renal failure in infants / 中华儿科杂志

<p><b>OBJECTIVE</b>To summarize clinical characteristics, diagnosis and treatment of infants with urinary calculus and acute renal failure developed after being fed with melamine tainted formula milk.</p><p><b>METHODS</b>Data of infant patients with urinary calculus and acute renal failure due to melamine tainted formula milk admitted to the Beijing Children's Hospital affiliated to the Capital Medical University and the Xuzhou Children's Hospital in 2008 were used to analyze the epidemiological characteristics, clinical manifestations, image features as well as effects of 4 types of therapies.</p><p><b>RESULTS</b>All the 34 infants with urinary calculus were complicated with acute renal failure, their blood urea nitrogen (BUN) was (24.1 +/- 8.2) mmol/L and creatinine (Cr) was (384.2 +/- 201.2) micromol/L. The chemical analysis on the urinary calculus sampled from 14 of the infants showed that the calculus contained melamine and acidum uricum. The time needed for the four types of therapies for returning Cr to normal was (3.5 +/- 1.9) d for cystoscopy group, (2.7 +/- 1.1) d for lithotomy group, (3.8 +/- 2.3) d for dialysis group, and (2.7 +/- 1.6) d for medical treatment group, which had no statistically significant difference (P = 0.508). Renal failure of all the 34 infants was relieved within 1 to 7 days, averaging (3.0 +/- 1.8) d.</p><p><b>CONCLUSION</b>Melamine tainted formula milk may cause urinary calculus and obstructive acute renal failure. It is suggested that firstly the patients with urinary calculus complicated with acute renal failure should be treated with dialysis or medication to correct electrolyte disturbances, in particular hyperkalemia, and then relieve the obstruction with available medical and surgical methods as soon as possible. It is observed that the short term prognosis is satisfactory.</p>