Related Experiment Video
Updated: Jul 24, 2025
Enema of Traditional Chinese Medicine for Patients with Severe Acute Pancreatitis
Published on: January 27, 2023
Successful therapy for congenital sodium diarrhea by enteral management: A case report
Dana A Thorvilson1, Caleb C Skiba1, Julia D Muzzy2
1North Dakota State University College of Pharmacy Nursing and Allied Sciences, Fargo, North Dakota, United States.
Insights
Congenital sodium diarrhea (CSD) is a rare genetic disorder. This case study shows successful management of a neonate with CSD using enteral feeds, avoiding long-term intravenous access.
Area of Science:
- Pediatric Gastroenterology
- Medical Genetics
Background:
- Congenital sodium diarrhea (CSD) is a rare inherited disorder characterized by excessive diarrhea and subsequent electrolyte imbalances.
- Current pediatric management often involves parenteral nutrition (PN) for fluid, nutrient, and electrolyte support during the first year of life.
Observation:
- A neonate presented with classic CSD symptoms: abdominal distension, profuse watery diarrhea, dehydration, and electrolyte abnormalities.
- Genetic testing confirmed a heterozygous variant in the GUCY2C gene, consistent with autosomal dominant CSD.
Findings:
- Initial treatment with PN was followed by a successful transition to full enteral feeds.
- The patient required frequent adjustments to therapy to maintain electrolyte homeostasis throughout hospitalization.
- An enteral fluid maintenance plan provided symptomatic control post-discharge through the first year of life.
Implications:
- This case highlights the potential for enteral feeding strategies in managing CSD, offering an alternative to prolonged intravenous support.
- Successful enteral management can improve patient outcomes and reduce complications associated with long-term central venous catheter use.
Background:
Congenital sodium diarrhea (CSD) is a rare disorder causing electrolyte imbalances due to excessive diarrhea. In pediatric literature, common practice for treating CSD includes parenteral nutrition (PN) for fluid, nutrient, and electrolyte support through the first year of the patient's life. The aim of this study was to report a neonate who showed common symptoms of CSD, including a distended abdomen, large amounts of clear, yellow fluid draining from the rectum, dehydration, and electrolyte abnormalities.
Case Summary:
A diagnostic gene panel was completed and confirmed heterozygous variant GUCY2C gene associated with autosomal dominant CSD. The infant was initially treated with PN to maintain fluid, nutrient, and electrolyte status, but was subsequently transitioned to full enteral feeds, showing improvement in symptoms. Frequent therapy adjustments were required to maintain appropriate electrolyte levels during the duration of the hospital stay. At discharge, the infant followed an enteral fluid maintenance plan that provided symptomatic control through the first year of life.
Conclusion:
This case demonstrated the ability to maintain electrolyte levels in a patient through enteral means while avoiding long-term use of intravenous access.
Related Concept Videos
01:15Enteral Nutrition II: Nasointestinal and Gastrostomy Feeding
Nasointestinal Feeding
Nasointestinal feeding involves placing a tube...
01:26Enteral Nutrition I: Orogastric and Nasogastric Feeding
Orogastric (OG) and nasogastric (NG) feeding are two standard methods used for enteral nutrition. Enteral nutrition is often preferred over...
01:24Nephrotic Syndrome III : Nursing Management
01:27Parentral Nutrition: Centeral and Peripheral Parental Nutrition
PN can be administered through two primary routes:
1. Central Parenteral Nutrition (CPN):
CPN involves delivering a high concentration of nutrients through a large vein. This is typically achieved using a Peripherally Inserted Central Catheter (PICC) or,...
01:27Urinary Tract Calculi IV: Nutrition Therapy and Prevention
01:28Chronic Kidney Disease III: Interprofessional Care