Volume 26, Issue 119, January 2022

Ventricular Septal defect (VSD) as an extra renal manifestation in Congenital Anomalies of Kidney and Urinary Tract (CAKUT) Syndrome: A rare Case report

Sagar VVSS^1♦, Sourya Acharya², Shantanu Gomase³, Rohan Kumar Singh⁴, Samarth Shukla⁵, Sunil Kumar⁶, Chitturi Venkata Sai Akhil⁷

¹Resident, Department of General Medicine, Jawaharlal Nehru Medical College & Acharya Vinoba Bhave Rural Hospital, Sawangi (Meghe), Wardha, Maharashtra, India
²Professor and Head, Department of General Medicine, Jawaharlal Nehru Medical College & Acharya Vinoba Bhave Rural Hospital, Sawangi (Meghe), Wardha, Maharashtra, India
³Assistant Professor, Department of Cardiology, Jawaharlal Nehru Medical College & Acharya Vinoba Bhave Rural Hospital, Sawangi (Meghe), Wardha, Maharashtra, India
⁴Resident, Department of Radiodiagnosis, Jawaharlal Nehru Medical College & Acharya Vinoba Bhave Rural Hospital, Sawangi (Meghe), Wardha, Maharashtra, India
⁵Professor, Department of Pathology, Jawaharlal Nehru Medical College & Acharya Vinoba Bhave Rural Hospital, Sawangi (Meghe), Wardha, Maharashtra, India
⁶Professor, Department of General Medicine, Jawaharlal Nehru Medical College & Acharya Vinoba Bhave Rural Hospital, Sawangi (Meghe), Wardha, Maharashtra, India
⁷Resident, Department of Pediatrics, Jawaharlal Nehru Medical College & Acharya VinobaBhave Rural Hospital, Sawangi (Meghe), Wardha, Maharashtra, India

^♦Corresponding author
Resident, Department of General Medicine, Jawaharlal Nehru Medical College & Acharya Vinoba Bhave Rural Hospital, Sawangi (Meghe), Wardha, Maharashtra, India

ABSTRACT

Congenital abnormalities of the kidney and urinary tract (CAKUT) are a key cause of morbidity and a substantial contributor to end-stage renal disease (ESRD). These anomalies are the most prevalent form of birth malformation. Other system abnormalities such as those of the heart, gastrointestinal tract, central nervous system, skeletal system, respiratory system, facial dysmorphism, reproductive system, abdominal wall coexist with these anomalies. Congenital heart defects (CHD) are the most frequent complication in this syndrome, according to previous data. These findings show a similar genetic aetiology for congenital heart disease (CHD) and renal abnormalities, implying that CHD patients are at a significantly increased risk of renal anomaly outcomes. To avoid renal damage and chronic kidney disease, it is crucial to be aware of this linkage in the early treatment and diagnosis of CAKUT. We present a case of a 23 year old male who presented to us with symptoms of ESRD and was diagnosed to be case of CAKUT syndrome with VSD as the extra renal association.

Keywords: Congenital, CAKUT, ESRD, genetics, hypodysplasia

Medical Science, 2022, 26, ms41e2003

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DOI: https://doi.org/10.54905/disssi/v26i119/ms41e2003

Published: 24 January 2022