Down Syndrome with End-Stage Renal Disease

Kute, Vivek B.; Vanikar, Aruna V; Shah, PR; Gumber, Manoj R.; Patel, Himanshu V.; Thakkar, Umang G; Trivedi, Hargovind L

doi:10.1007/s12291-013-0308-1

Cited by 7 publications

(4 citation statements)

References 9 publications

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“…Currently, there are no official guidelines to screen for kidney defects in patients with Down syndrome [41,42]. Evidence from some recent reports indicate a potential benefit in performing such screening procedures in newborns [4] as well as in subjects entering their second and third decades of life [43]. The findings of our study support such notions as kidney and urinary tract anomalies could be missed if imaging examination is not systematically performed.…”

Section: Discussionsupporting

confidence: 76%

Widespread kidney anomalies in children with Down syndrome

Postolache,

Parsa,

Simoni

et al. 2022

Pediatr Nephrol

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Background Rare autopsy studies have described smaller kidneys as well as urinary tract anomalies in Down syndrome. This observation has never been investigated in vivo and little is known about the possible consequences upon kidney function.Here we wish to confirm whether children with Down syndrome have smaller kidneys and to evaluate their kidney function in vivo. Methods This retrospective cohort study enrolled 49 children with Down syndrome, as well as 49 age-and sex-matched controls at the Queen Fabiola Children's University Hospital in Brussels, Belgium. Doppler and kidney ultrasonography, spot urine albumin to creatinine ratio, estimated glomerular filtration rate (eGFR), and anthropometric data were recorded. Results Kidney size in children with Down syndrome was smaller than age-and sex-matched controls in terms of length (p < 0.001) and volume (p < 0.001). Kidney function based on eGFR was also decreased in Down syndrome compared to historical normal. Twenty-one of the children with Down syndrome (42%) had eGFR < 90 mL/min/1.73 m 2 , with 5 of these (10%) having an eGFR < 75 mL/min/1.73 m 2 . In addition, 7 of the children with Down syndrome (14%) had anomalies of the kidney and/or urinary tract that had previously been undiagnosed. Conclusions Children with Down syndrome have significantly smaller kidneys than age-matched controls as well as evidence of decreased kidney function. These findings, in addition to well-noted increased kidney and urologic anomalies, highlight the need for universal anatomical and functional assessment of all individuals with Down syndrome.

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Section: Discussionsupporting

confidence: 76%

Widespread kidney anomalies in children with Down syndrome

Postolache,

Parsa,

Simoni

et al. 2022

Pediatr Nephrol

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“…DS results from triplication of chromosome 21, the most common aneuploidy and characteristic phenotypes accompanying well-described systemic perturbations to metabolism, immunity, hematopoiesis, and endocrinology in trisomy 21 [ 3 , 4 ]. DS patients exhibit several congenital renal abnormalities that increase susceptibility to long-term kidney disease [ 5 ]. Compared to age-matched controls, children with DS exhibit significantly smaller kidney size as well as evidence of impaired renal function [ 6 ].…”

Section: Introductionmentioning

confidence: 99%

“…Case reports represent the majority of existing data on kidney and urinary tract disease in Down syndrome, with only 1 to 69 patients described in each study [ 1 , 5 , 19 , 20 , 21 ]. The field of medical research has seen a surge of interest in recent years regarding heart-related outcomes in individuals with Down syndrome [ 7 , 8 , 17 ].…”

Section: Introductionmentioning

confidence: 99%

Long-Term Non-Congenital Cardiac and Renal Complications in Down Syndrome: A Study of 32,936 Patients

Huang,

Wang

et al. 2023

Children

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Background: Individuals with Down syndrome are at a higher risk of cardiac, renal, and other health issues due to a complex disease physiology. However, few data exist on long-term disease risks to guide prevention and care. We aimed to determine the 10-year incidence of cardiac, renal, and urinary tract complications in Down syndrome versus matched controls. Methods: This retrospective cohort study utilized a large collaborative database. We identified 32,444 patients with Down syndrome and matched controls, excluding those with pre-follow-up target events. Covariates included demographics, lifestyle factors, and comorbidities. Outcomes were ischemic heart disease, hypertension, hypothyroidism, epilepsy, urinary tract infections and chronic kidney disease. We calculated unadjusted and adjusted hazard ratios (HRs) and 95% confidence intervals (CIs) using Cox regression and plotted Kaplan–Meier survival curves. Findings: Over 10 years, Down syndrome patients showed a 3.7-fold higher ischemic heart disease risk (95% CI: 3.0–4.6) and a 1.6-fold higher hypertension risk (95% CI: 1.4–1.8) versus controls. Hypothyroidism (HR = 2.0; 95% CI: 1.7–2.4), epilepsy (HR = 4.5; 95% CI: 3.5–5.8), and urinary tract infection (HR = 3.9; 95% CI: 3.4–4.6) risks were also higher. Chronic kidney disease risk was 2.7-fold greater (95% CI: 2.1–3.5). Survival analysis confirmed a significantly higher incidence of all outcomes in Down syndrome (p < 0.0001). Interpretation: This large study found major health challenges in Down syndrome, with risks 3- to 5-fold higher for chronic conditions versus matched controls over 10 years. Though survival remains high with proper care, focusing resources on the prevention and management of complications in this high-risk group can optimize well-being across the lifespan. Future research accounting for limitations here would provide definitive estimates of disease risk in Down syndrome to guide targeted health strategies.

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“…2 Although renal disease has been thought to be quite rare the incidence of renal and urological anomalies has been estimated in the range of 3.5-21.4%. 3 Preexisting chronic kidney disease increases perioperative risk. 4 During general anaesthesia, the most common causes of morbidity are airway and respiratory complications.…”

Section: Introductionmentioning

confidence: 99%

Anaesthetic Management of a Case of Down Syndrome with Chronic Kidney Disease Undergoing Major Orthopaedic Surgery

Naik,

Prahalad,

Kate

2023

JAP

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Background: Down syndrome is one of the common congenital chromosomal disorders. Renal complications in Down syndrome patients are rare but is increasing in number due to increased survival. Anaesthesia in such patients is challenging due to intellectual disability, anatomical complications and multiple comorbidities. Case: This case report describes the pre-operative evaluation and anaesthetic management of a 19 -year-old male patient with Down syndrome with hypothyroidism with Chronic Kidney Disease stage 4 who underwent open reduction internal fixation with plating for bilateral subtrochanteric fracture under general anaesthesia. It was a complicated surgery for both surgeon and anaesthetist because the patient was anaemic with significant anticipated blood loss along with fluid restriction during the perioperative period. We had major challenges like patient positioning, significant blood loss, hypotension, and early fluid overload. But an extensive preoperative evaluation, optimization prior and proper coordination we overcame the challenges. Conclusion: Major orthopaedic surgeries in patients like Down syndrome with chronic kidney disease create a major anaesthetic challenge due to expected significant blood loss, chances of fluid overload, multiple comorbidities and intellectual disability. Thorough preoperative evaluation, intraoperative monitoring as well as postoperative period is important as several complications are envisaged. So a closed group management with orthopaedic surgeon, nephrologist, anaesthesiologist, endocrinologist, nursing team is required to handle such complicated cases.

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Down Syndrome with End-Stage Renal Disease

Cited by 7 publications

References 9 publications

Widespread kidney anomalies in children with Down syndrome

Widespread kidney anomalies in children with Down syndrome

Long-Term Non-Congenital Cardiac and Renal Complications in Down Syndrome: A Study of 32,936 Patients

Anaesthetic Management of a Case of Down Syndrome with Chronic Kidney Disease Undergoing Major Orthopaedic Surgery

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