Original InvestigationsCongenital renal agenesis: Case-control analysis of birth characteristics*,**
Section snippets
Study population
We conducted a case-control study of Colorado births with RA by using the Colorado State Birth Registry and the CRCSN between 1989 and 1998. A case is defined as a live birth infant with RA using the International Classification of Diseases, Ninth Revision (ICD-9) diagnosis code 753.0, as identified in the CRCSN database. The CRCSN database captures cases of RA in children up to 3 years of age.
A total of 551,285 births were reported from Colorado between 1989 and 1998. In these years, 189
Results
The birth prevalance of RA in Colorado from 1989 to 1998 was approximately 1 case per 2,900 live births in our study. Seventy-six cases (40.6%) were girls, and 111 cases (59.4%) were boys (P = 0.02). A greater proportion of case infants compared with controls had mothers who were 18 years or younger, black, and educated less than 12 years (Table 1).
Empty Cell
Discussion
The incidence of RA in our study was approximately 1 in 2,900 births. The incidence reported in the literature varies significantly, from 1 case in 500 to 3,200 births. This discrepancy in the reported incidence may be related to sample sizes, diagnostic methods, and population or ethnic differences. This incidence has been stable over the last 10 years in Colorado. The incidence may be decreasing because despite improvement in diagnostic capabilities, the number of cases has remained stable.
Acknowledgements
The authors thank Dr Lisa Miller, Rickey Tolliver, and Russel Rickard from the Colorado Department of Health for help with access to the CRCSN and Colorado Birth Registry databases and Drs Ned Calonge and Dennis Lezotte for invaluable suggestions given during the study.
These data were supplied by the Colorado Department of Public Health and Environment, which specifically disclaims responsibility for any analyses, interpretations, or conclusions it has not provided.
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Cited by (77)
Maternal risk factors for congenital anomalies of the kidney and urinary tract: A case-control study
2023, Journal of Pediatric UrologyCongenital Anomalies of the Kidney and Urinary Tract
2022, Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics: Hematologic, Renal, and Immunologic DisordersCongenital Anomalies of the Kidney and Urinary Tract (CAKUT): An Emerging Relationship With Pregestational Diabetes Mellitus Among First Nations and Non-First Nations People in Saskatchewan—Results From the DIP: ORRIIGENSS Project
2021, Canadian Journal of DiabetesCitation Excerpt :Despite this, there have been few clinical/epidemiologic studies on CAKUT perfomed in North America, and no cohort studies describing the course and outcomes of affected children. The purpose of this longitudinal investigation was to describe the epidemiology of CAKUT among First Nations (FN) and non-First Nations (non-FN) people in Saskatchewan from 1980 to 2014, with a particular emphasis on the role of hyperglycemia associated with diabetes in pregnancy (DIP) in its pathogenesis (5–11). Using administrative databases, our specific objectives were to determine the annual incidence, predictors and complications of CAKUT, as well as cumulative survival until ESRD and death among affected persons.
Patterns of co-occurring birth defects among infants with hypospadias
2021, Journal of Pediatric UrologyCitation Excerpt :These renal malformations may be occurring with hypospadias, in at least a portion of subjects, as a result of errors occurring due to shared etiologic origins during development. Incidentally, renal agenesis, specifically, is observed more frequently in males than females (7:1) [18]. However, in some cases, the combination of these renal defects and hypospadias may additionally suggest the presence of a specific complex called congenital anomalies of the kidneys and urinary tract (CAKUT), which includes cystic kidney defects and renal agenesis, as well as hypospadias and other urogenital defects [19,20] CAKUT arises due to genetic mutations that affect multi-functional transcription factors and other proteins which disrupt the differentiation of the intermediate mesoderm and endotherm, leading to multiple defects within the urogenital system [21].
Development of the metanephric kidney
2021, Current Topics in Developmental BiologyCitation Excerpt :These changes are then predicted to alter the expression of genes critical to regulating kidney development which may interact with hypomorphic gene mutations present in the embryo. As an example, hyperglycemia associated with maternal diabetes has been associated with renal agenesis (Parikh, McCall, Engelman, & Schrier, 2002), the later development of chronic kidney disease (Hsu, Yamamoto, Henry, De Roos, & Flynn, 2014) and more generally with CAKUT phenotypes (Dart, Ruth, Sellers, Au, & Dean, 2015) and such findings have been replicated in animal models (Hokke et al., 2013). How these effects are mediated and the extent to which they are controlled by epigenetic change remains a significant question.
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Address reprint requests to Chirag Parikh, MD, Division of Renal Diseases and Hypertension, Box C-281, University of Colorado Health Sciences Center, 4200 E Ninth Ave, Denver, CO 80262. E-mail: [email protected]
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