Please try after some time. Medicine: February - Volume 95 - Issue 5 - p e The authors have no conflicts of interests to disclose. Back to Top Article Outline. TABLE 1. TABLE 2.
Congenital anomalies of kidney and urinary tract - Genetics Home Reference - NIH
TABLE 3. Song R, Yosypiv IV. Genetics of congenital anomalies of the kidney and urinary tract. Pediatr Nephrol ; — Cited Here PubMed CrossRef. Mizuno R. Increase in male fetal deaths in Japan and congenital anomalies of the kidney and urinary tract. Reprod Toxicol ; — Queisser-Luft A, Stolz G, Wiesel A, et al Malformations in newborn: results based on 30, infants and fetuses from the Mainz congenital birth defect monitoring system — Arch Gynecol Obstet ; — Am J Kidney Dis ; 65 6 suppl 1 :A7.
Wuhl E, van Stralen KJ, Verrina E, et al Timing and outcome of renal replacement therapy in patients with congenital malformations of the kidney and urinary tract. Clin J Am Soc Nephrol ; — Patterson CC, Dahlquist GG, Gyurus E, et al Incidence trends for childhood type 1 diabetes in Europe during — and predicted new cases — a multicentre prospective registration study.
Lancet ; — Diabetes Care ; — JAMA ; — Epidemiology ; — Am J Kidney Dis ; — Franke D, Volker S, Haase S, et al Prematurity, small for gestational age and perinatal parameters in children with congenital, hereditary and acquired chronic kidney disease. Nephrol Dial Transplant ; — J Mol Med Berl ; — Birth Reporting. Accessed August 29, Am J Epidemiol ; — Agresti A.
Congenital anomalies of kidney and urinary tract
Categorical Data Analysis. Arch Dis Child ; — Yosypiv IV. Congenital anomalies of the kidney and urinary tract: a genetic disorder? Int J Nephrol ; A review of 46 cases. Br J Obstet Gynaecol ; — Maternal and perinatal outcomes amongst haemoglobinopathy carriers: a systematic review. Int J Clin Pract ; — Ott WJ. Reevaluation of the relationship between amniotic fluid volume and perinatal outcome.
Am J Obstet Gynecol ; — Morris RK, Meller CH, Tamblyn J, et al Association and prediction of amniotic fluid measurements for adverse pregnancy outcome: systematic review and meta-analysis. BMJ Open ; 1:e Interdisciplinary treatment in cases of bilateral agenesis. Incompletely developed or absent kidney. Unilateral dysplasia is usually asymptomatic ; bilateral dysplasia leads to early renal insufficiency and may lead to renal failure. Displacement of the kidney within the retroperitoneum.
Torsion of the orthotopic kidney. Displacement of the kidneys ; both kidneys are located on the same side of the spine. Fusion of the left and right inferior renal poles. Usually asymptomatic ; urinary tract obstruction may occur Rarely requires treatment Typically seen incidentally on abdominal imaging for other purposes Normal ascent interrupted as fused kidney gets caught on inferior mesenteric artery.
Duplication of the ureter ; the distal ureters converge and share a single ostium into the bladder. Possible yo-yo effect of the urine in the Y-shaped ureter uretero-ureteral reflux. Duplication of the ureter with two separate orifices merging into the bladder. Modified from Stoll et al. Past medical history in the antenatal period that is associated with CAKUT most often includes oligoamnios, prematurity, low birth weight, and intrauterine growth restriction. A study carried out in Japan showed an association between perinatal history and CAKUT, suggesting signs to indicate the screening of children.
The literature is quite scarce on the description of warning signs and symptoms of urinary system impairment. The controversy on the use of episodes of urinary tract infection as a CAKUT indicator is quite intense, but it appears that some situations represent a higher probability of association with CAKUT.
Congenital Anomalies of the Kidney and Urinary Tract
Age younger than 2 years and high fever higher than Finally, another evidence that is relevant to allow for the early diagnosis of congenital nephropathy is blood pressure. It is known that hypertension is more common in children with nephropathy and, conversely, that blood pressure control has an effective therapeutic response by slowing CKD progression in children. The use of ultrasonography in the monitoring of pregnancy and neonates began in the late s. Currently, gestational ultrasonography is part of the medical routine in most countries, with at least two examinations during pregnancy to monitor fetal development and identify possible malformations.
In a European study conducted in 12 countries, the sensitivity to renal malformation detection was Hydronephrosis is the ultrasonographic finding most often identified and described. Antenatal hydronephrosis is the presence of one or both kidneys with some degree of pyelocalyceal system dilation in the fetus.
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The diagnosis is attained through obstetric ultrasonography, using as the main parameter the anteroposterior diameter APD of the renal pelvis and the presence of caliectasis. There is hydronephrosis when the pelvis APD is above certain limits, but there is no consensus on the definition of these limits yet.
The most frequently cited values, above which there is a greater risk of renal function deterioration or need for surgery, are those proposed by the Society for Fetal Urology SFU , 24 which are summarized in Table 4. The highest positive predictive value PPV is found in the examination performed in the third trimester of pregnancy.
Another ultrasonographic finding that is important for the diagnosis and prognosis of children with CAKUT is the hydronephrosis classification proposed by the SFU, which is based on the degree of pyelocalyceal dilation and also takes parenchyma integrity into account.
Grade 0 represents a normal ultrasonography; the other grades are shown in Table 5. This classification system was developed for ultrasonography performed after birth. However, it has been applied to antenatal ultrasonography, and there is evidence that children with grades 3 and 4 of hydronephrosis have increased risk of need for surgery and renal function deterioration.
This study aimed to review the medical literature to list the main clinical data that might be useful in pediatric practice for the early identification of patients with CAKUT. In the present epidemiological scenario, characterized by a decrease in morbidity and mortality secondary to infectious diseases, chronic diseases in general and particularly CKD have become more important in clinical practice, which should become even more prominent with time.
Current evidence shows that CKD has its origins in intrauterine life, and at present it is known that the number of nephrons in each kidney can vary greatly between individuals, and that a lower number of kidney functional units increases the risk of CKD and cardiovascular disease. These findings anticipate to the pediatric range the moment of greatest interest to attain an early diagnosis of patients at risk for CKD. The time to perform this diagnostic search should be as early as possible, preferably before birth.
It is known that even in situations where well-organized follow-up services are available, incomplete adherence of families to the necessary procedures for diagnostic research is a frequent phenomenon. Some countries seek the early diagnosis of risk for CKD using compulsory programs of urinary sediment tests or imaging assessment at certain ages, 36 , 37 but the cost-effectiveness analyses of such programs never conclusively demonstrated that this initiative was advantageous.
This strategy appears to be particularly accurate in countries with limited resources in the health care area. In Brazil, with the exception of the Southeast region, the unknown cause is the most common diagnosis of advanced CKD in children, 5 suggesting that there is an important gap to be filled in order to better categorize the diagnosis of CKD. It is plausible that many children reach the final stage of the CKD evolution without having access to diagnosis of CAKUT, which is the most important cause of this disease worldwide.
A noteworthy observation in this review was that there are no studies with a robust methodology to provide answers based on solid evidence about the subject. Most of the reviewed studies were descriptive and single-centered and, therefore, the findings summarized herein must be considered as preliminary data. The authors believe that, even with the methodological limitations of the reviewed studies, the suggestions can help pediatricians to establish clinical hypotheses for the early diagnosis of abnormalities of the genitourinary tract development, by using clinical data and information from the gestational ultrasonography, without resorting to expensive and invasive methods.
As there are no prospective data to evaluate which clinical signs and symptoms listed here are more important to identify the risk, the authors believe that, for the moment, the occurrence of any of them should be an indication to investigate children regarding the possible existence of CAKUT, as early as possible. Signs and symptoms of developmental abnormalities of the genitourinary tract.
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