Related Experiment Video

Updated: Aug 15, 2026

Implementing Patch Clamp and Live Fluorescence Microscopy to Monitor Functional Properties of Freshly Isolated PKD Epithelium
08:46

Implementing Patch Clamp and Live Fluorescence Microscopy to Monitor Functional Properties of Freshly Isolated PKD Epithelium

Published on: September 1, 2015

Junctional epidermolysis bullosa, pyloric atresia, and genitourinary disease

T G Berger, R L Detlefs, C F Donatucci

    Pediatric Dermatology
    |February 1, 1986
    PubMed

    Insights

    Junctional epidermolysis bullosa and pyloric atresia can co-occur with genitourinary issues. This case highlights a boy with mild skin findings, corrected pyloric atresia, and significant kidney disease due to ureterovesical junction obstruction.

    Area of Science:

    • Pediatric Medicine
    • Genetics
    • Nephrology

    Background:

    • Junctional epidermolysis bullosa (JEB) is a rare genetic blistering skin disorder.
    • Pyloric atresia is a congenital anomaly causing gastric outlet obstruction.
    • The co-occurrence of JEB and pyloric atresia is infrequently reported.

    Observation:

    • Several reported cases of JEB with pyloric atresia also exhibit genitourinary anomalies.
    • This report details a 4.5-year-old boy with JEB and pyloric atresia.
    • The patient presented with mild cutaneous manifestations and corrected pyloric atresia.

    Findings:

    • The patient experienced significant renal disease.
    • The renal disease was attributed to recurrent ureterovesical junction obstruction.
    • This case underscores a potential link between JEB, pyloric atresia, and complex genitourinary pathology.

    Implications:

    • Early recognition of genitourinary complications is crucial in infants with JEB and pyloric atresia.
    • Further research may elucidate the shared genetic or developmental pathways.
    • Comprehensive management strategies are needed for affected children.

    More Related Videos

    Assessing Urinary Tract Junction Obstruction Defects by Methylene Blue Dye Injection06:05

    Assessing Urinary Tract Junction Obstruction Defects by Methylene Blue Dye Injection

    Published on: October 12, 2017

    Urethroplasty with Pedicled Tunica Vaginalis for the Treatment of Long-segment Anterior Urethral Stricture Caused by Lichen Sclerosus of Glans Penis03:55

    Urethroplasty with Pedicled Tunica Vaginalis for the Treatment of Long-segment Anterior Urethral Stricture Caused by Lichen Sclerosus of Glans Penis

    Published on: October 18, 2024

    Related Concept Videos

    Smooth Endoplasmic Reticulum01:21

    Smooth Endoplasmic Reticulum

    Smooth endoplasmic reticulum or smooth ER is a sub-organelle with specialized functions in animal cells and plant cells. It is often associated with the tubule morphology of the endoplasmic reticulum.
    The ER provides optimal conditions for synthesizing steroid hormones and lipids, such as phospholipids and triglycerides. Traditionally, lipid metabolism was considered to be a smooth ER function. However, there is no direct evidence to prove that rough ER is completely excluded from lipid...
    Disorders of the Urinary System01:20

    Disorders of the Urinary System

    The urinary system is responsible for eliminating waste and excess fluids from the body. However, disorders of the urinary system can arise due to various reasons like infections, stress, age, congenital abnormalities, and lifestyle.
    Urinary tract infections (UTIs) are one of the most common urinary system disorders. They are caused by bacteria that enter the urethra and can spread to the bladder resulting in cystitis. Pyelonephritis is the result of a UTI that has ascended to the level of the...
    Peptic Ulcer Disease I: Introduction01:30

    Peptic Ulcer Disease I: Introduction

    Peptic Ulcer Disease (PUD) is characterized by mucosal excavation in the esophagus, stomach, pylorus, or duodenum. It can manifest as acute or chronic based on the extent and duration of mucosal involvement.
    An acute ulcer, marked by superficial erosion and minimal inflammation, swiftly resolves upon identifying and addressing the underlying cause. In contrast, a chronic ulcer persists, potentially eroding through the muscular wall and forming fibrous tissue.
    Peptic ulcers can also be...
    Urinary Tract Calculi II: Pathophysiology and Clinical Manifestations01:26

    Urinary Tract Calculi II: Pathophysiology and Clinical Manifestations

    Renal calculi, commonly termed kidney stones, are crystalline solid masses that form in the kidneys but can occur at any point within the urinary system, encompassing the kidneys, ureters, bladder, and urethra.The pathophysiology of renal stones involves several key factors: supersaturation of the urine with stone-forming constituents, changes in urine pH, a decrease in urine volume, and the presence of substances that promote or inhibit stone formation.Supersaturation of Urine: This is the...
    Acute Kidney Injury II: Pathophysiology01:29

    Acute Kidney Injury II: Pathophysiology

    Acute kidney injury (AKI) causes are categorized into three primary categories based on the location of the injury: prerenal, intrarenal (or intrinsic), and postrenal causes. This classification guides clinical management and illustrates how different pathways can impair kidney function.Etiology and Pathophysiology of Acute Kidney Injury1. Prerenal causesEtiology: Prerenal Acute Kidney Injury, the most common type, occurs when reduced blood flow to the kidneys decreases filtration capacity...
    Peptic Ulcer01:27

    Peptic Ulcer

    Peptic ulcers are erosive lesions of the gastric or duodenal lining, most commonly caused by Helicobacter pylori infection. This Gram-negative, helical bacterium has adapted to survive the stomach’s acidic environment by producing urease, which converts urea into ammonia and carbon dioxide. The ammonia neutralizes gastric acid in the bacterium’s immediate environment, allowing colonization of the gastric mucosa. H. pylori attaches to mucus-secreting epithelial cells, penetrates the mucus...