Kidney Week

Abstract: SA-PO0365

An Unusual Presentation of Hirschsprung Disease with Unilateral Hydronephrosis and Hypertension in an Adolescent Boy

Session Information

• AKI: Case Reports - Drug/Toxin Injury, Crystals, Obstruction, and Unusual Presentations
  October 24, 2026 | Location: Exhibit Hall A, Convention Center
  Abstract Time: 10:00 AM - 12:00 PM

Category: Acute Kidney Injury

• 102 AKI: Clinical, Outcomes, and Trials

Authors

• Maekawa, Shohei, Kyoto Daigaku, Kyoto, Kyoto Prefecture, Japan

Shohei Maekawa, MD

• Yamamoto, Shinya, Kyoto Daigaku, Kyoto, Kyoto Prefecture, Japan

Shinya Yamamoto, MD, PhD

• Kotani, Mina, Kyoto Daigaku, Kyoto, Kyoto Prefecture, Japan

Mina Kotani, MD

• Suzuki, Haruka, Kyoto Daigaku, Kyoto, Kyoto Prefecture, Japan

Haruka Suzuki, MD

• Muro, Koji, Kyoto Daigaku, Kyoto, Kyoto Prefecture, Japan

Koji Muro, MD

• Yanagita, Motoko, Kyoto Daigaku, Kyoto, Kyoto Prefecture, Japan

Motoko Yanagita, MD, PhD

Introduction

Hirschsprung disease is a congenital intestinal motility disorder characterized by distal bowel aganglionosis, typically presenting in the neonatal period but occasionally remaining undiagnosed until later childhood or adolescence. Hydronephrosis as the initial clue to the diagnosis is rare. We report a case of Hirschsprung disease in an adolescent male diagnosed after presenting with megacolon-induced postrenal kidney injury and secondary hypertension.

Case Description

A 15-year-old male was hospitalized at 2 years of age for fecal impaction, which improved after manual disimpaction and bowel irrigation. After discharge, he continued to have infrequent bowel movements, approximately three times per week, requiring intermittent oral laxatives; however, he had not received regular outpatient follow-up. He presented to a local clinic with a 2-week history of constipation and headache. Laboratory testing showed impaired kidney function, with a serum creatinine level of 1.2 mg/dL, and his blood pressure was markedly elevated at 176/114 mmHg. He was referred to our department for further evaluation.

Urinalysis showed no abnormalities. However, plasma renin activity and aldosterone levels were elevated. Abdominal computed tomography revealed marked fecal retention with megacolon, right ureteral displacement, and right hydronephrosis caused by mechanical compression. After fecal evacuation under general anesthesia, the hydronephrosis resolved and kidney function improved, with a decrease in serum creatinine to 0.9 mg/dL. His blood pressure and renin–aldosterone levels also normalized. Rectal mucosal biopsy showed increased acetylcholinesterase-positive nerve fibers and absence of ganglion cells, leading to a diagnosis of Hirschsprung disease. With bowel management using regular enemas, hydronephrosis has not recurred, and kidney function has remained stable.

Discussion

In the present case, megacolon caused by severe fecal impaction likely compressed the right ureter, resulting in unilateral hydronephrosis and postrenal AKI. The associated hypertension was considered to be secondary to activation of the renin–angiotensin–aldosterone system caused by impaired renal perfusion. This case highlights that Hirschsprung disease should be considered as a rare cause of hydronephrosis, kidney dysfunction, and secondary hypertension in young patients with chronic constipation.