Congenital chloride diarrhea (1) (1)
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This document discusses the case of a newborn with Congenital Chloride Diarrhea (CCD) based on the family history of a previous sibling also having been diagnosed with CCD. The previous sibling underwent genetic testing in the UK which confirmed CCD. For the current patient, diagnostic testing showed elevated stool chloride levels consistent with CCD. The patient was treated with oral electrolyte supplementation and showed improvement with weight gain and stabilized electrolytes before being discharged. Follow up was planned with paediatrics gastroenterology.
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This document discusses the case of a newborn with Congenital Chloride Diarrhea (CCD) based on the family history of a previous sibling also having CCD. The newborn presented with polyhydramnious and dilated bowel loops seen on ultrasound. Genetic testing of the previous sibling confirmed a diagnosis of CCD. The newborn was treated with electrolyte supplementation and monitoring. Stool studies showed elevated sodium and chloride levels consistent with CCD. The newborn was discharged on oral sodium and potassium supplementation with follow up by pediatric gastroenterology.
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Congenital chloride diarrhea (case presentation)
This document discusses the case of a newborn with Congenital Chloride Diarrhea (CCD) based on the family history of a previous sibling also having CCD. The newborn presented with polyhydramnious and dilated bowel loops seen on ultrasound. Genetic testing of the previous sibling confirmed a diagnosis of CCD. The newborn was treated with electrolyte supplementation and monitoring. Stool studies showed elevated sodium and chloride levels consistent with CCD. The newborn was discharged on oral sodium and potassium supplementation with follow up by pediatric gastroenterology.
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Your abdomen extends from below your chest to your groin. Some people call it the stomach, but your abdomen contains many other important organs. Pain in the abdomen can come from any one of them. The pain may start somewhere else, such as your chest. Severe pain doesn't always mean a serious problem. Nor does mild pain mean a problem is not serious.
Call your healthcare provider if mild pain lasts a week or more or if you have pain with other symptoms. Get medical help immediately if:
-- You have abdominal pain that is sudden and
sharp
-- You also have pain in your chest, neck or
shoulder
-- You're vomiting blood or have blood in your
stool
-- Your abdomen is stiff, hard and tender to
touch
-- You can't move your bowels, especially if
you're also vomiting
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2. The causes of chronic diarrhea include secretory, osmotic, steatorrheal, inflammatory, dysmotility, and iatrogenic factors.
3. The approach to a patient with chronic diarrhea involves obtaining a detailed history and physical exam, followed by screening tests and further testing depending on the results to identify the underlying cause and guide management.
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2. Management of acute pancreatitis involves keeping the patient nil by mouth, providing IV fluids and analgesia, monitoring vitals and lab work daily, and transferring severe or worsening cases to the ICU for possible antibiotics, oxygen, or surgery.
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- A discussion of common gastrointestinal disorders like GERD, hiatal hernia, and esophageal cancer.
- Details on laboratory procedures used to evaluate gastrointestinal issues such as occult blood, C/S stool, and stool exams.
- Information on gastrointestinal surgical procedures including Nissen fundoplication.
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A 6-year-old boy presented with abdominal pain and vomiting after a history of blunt abdominal trauma. Ultrasounds showed biliary sludge initially leading to a diagnosis of acute cholecystitis, but the patient did not improve with medical treatment. Repeated ultrasound then revealed an epigastric mass. A CT scan confirmed a duodenal hematoma from the trauma. The boy underwent surgery where the duodenal injury was repaired. Duodenal injuries from blunt trauma can be difficult to diagnose but require suspicion and exploration if certain intra-operative findings are present.
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Your abdomen extends from below your chest to your groin. Some people call it the stomach, but your abdomen contains many other important organs. Pain in the abdomen can come from any one of them. The pain may start somewhere else, such as your chest. Severe pain doesn't always mean a serious problem. Nor does mild pain mean a problem is not serious.
Call your healthcare provider if mild pain lasts a week or more or if you have pain with other symptoms. Get medical help immediately if:
-- You have abdominal pain that is sudden and
sharp
-- You also have pain in your chest, neck or
shoulder
-- You're vomiting blood or have blood in your
stool
-- Your abdomen is stiff, hard and tender to
touch
-- You can't move your bowels, especially if
you're also vomiting
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Chronic diarrhea
1. Chronic diarrhea is defined as persistent changes in stool consistency and increased stool frequency lasting over 4 weeks.
2. The causes of chronic diarrhea include secretory, osmotic, steatorrheal, inflammatory, dysmotility, and iatrogenic factors.
3. The approach to a patient with chronic diarrhea involves obtaining a detailed history and physical exam, followed by screening tests and further testing depending on the results to identify the underlying cause and guide management.
Necrotizing Enterocolitis
Necrotizing enterocolitis (NEC) is an acquired intestinal disease seen primarily in preterm infants. It is a leading cause of morbidity and mortality in neonatal intensive care units. The exact cause is unknown but involves intestinal ischemia, enteral feeding, and pathogenic bacteria. Risk factors include prematurity, enteral feeding, and abnormal gut colonization. Clinically, NEC presents with abdominal signs and symptoms as well as systemic involvement. Treatment involves bowel rest, antibiotics, and surgery for perforation or necrosis. Despite management, NEC carries significant mortality and morbidities like short bowel syndrome.
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Upper GI case study
This patient is a 57-year-old male admitted to the hospital with fever and abdominal pain. He has a history of hiatal hernia, GERD, and obesity. Diagnostic tests revealed esophagitis, gastric ulcer, and H. pylori infection. His diet lacks vegetables and contains high amounts of caffeine and refined carbs. Nutrition issues include obesity, high caffeine intake increasing GERD risk, and low vegetable intake. Goals are to reduce coffee to one cup, add vegetables at meals, and walk 30 minutes daily instead of watching TV to address obesity and GERD risk.
Chronic diarrhea
A 44-year-old female presented with loose stools and blood in her stool for one month. She has a history of inflammatory bowel disease. Chronic diarrhea can be caused by secretory, osmotic, steatorrheal, inflammatory, or dysmotility issues. An evaluation of the patient's history, exam, and labs can help determine the underlying cause, such as celiac disease, inflammatory bowel disease, or medication side effects. Treatment involves rehydration, managing the underlying cause, and symptomatic relief with medications as needed.
Neonatal Necrotizing Enterocolitis
Necrotizing enterocolitis (NEC) is a life-threatening condition that affects the intestines of premature infants. It results from necrosis of the intestinal tissue and can range from mild to severe. Risk factors include prematurity, formula feeding, and bacterial or viral infections. Symptoms may include abdominal distension, bloody stools, and temperature instability. Diagnosis involves x-rays showing pneumatosis intestinalis or portal venous gas. Treatment focuses on gut rest, broad-spectrum antibiotics, surgery for perforation or failure to improve, and careful feeding advancement after recovery. Outcomes depend on severity but may include strictures, adhesions, or short bowel syndrome.
Nir Hus Q 25 26 iv
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http://www.nirhus.com
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- It is rare, especially in non-endemic countries, but can be serious if not diagnosed quickly.
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- Different malaria species can persist in the blood for varying time periods.
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A Case of Chylous Ascites
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Chronic obstructive pancreatitis.docx
The patient presented with chronic pain in the epigastric region and back, steatorrhea, weight loss, and weakness. A physical exam revealed a yellow skin tone and dullness to percussion in the epigastric region. Laboratory tests showed leukocytosis with a shift in formula and increased levels of bilirubin, alanine, phosphatase, and amylase. Imaging including X-ray, CT scan, and ERCP revealed signs of chronic pancreatitis including calcifications, stones, pancreatic enlargement, and associated biliary pathology. The patient was diagnosed with chronic obstructive pancreatitis likely caused by a history of high protein and fatty foods as well as alcohol and spicy food consumption. The proposed treatment plan involved
CASE STUDY ON UTI AND OBSTRUCTIVE JAUNDICE
A 63-year old female presented with abdominal pain, yellow urine, and burning urination. Lab work showed elevated liver enzymes and bilirubin consistent with obstructive jaundice. Imaging revealed gallstones obstructing the common bile duct, causing jaundice. She was diagnosed with urinary tract infection, obstructive jaundice, and gallstones. Treatment included antibiotics, antacids, and antispasmodics.
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Congenital chloride diarrhea (1) (1)
- 2. The patient b/o ABC 29 ys,P2+1, 33 wks., booked, local lady ANSS severe polyhydramnious, dilated bowel loops with ? Dudeno-jejunal atresia, AFI-36.7 HBsAg, HIV-Neg, Rubella- Immune Previous sibling Congenital Chloride Diarrhea
- 3. h/o previous sibling 36 weeks, AGA ANSS: polyhydramnious, dilated bowel loops D1: Passed large watery stool NICU (LH): 45 days Paed gastroenterology consulted (GOS Hosp/DH) Admitted in UK twice (for evaluation)
- 4. Previous sibling…. Impression of Paed gastroenterologist (UK) Confirmed diagnosis of CCD Advised-Genetic testing for the gene associated with CCD (SLC26A3/6) Endoscopy showed: lymphonodular hyperplasia in the colon, mild increase in eosinophil density
- 5. Advice in UK (previous sibling….) Electrolyte supplementation Oral butyrate to be considered f/u 4 times a year Review by nephrologist Monitor blood gas, electrolytes, growth, creatinine and urine chloride Clinical genetic referral
- 6. The patient Emergency LSCS, Indi: placental abruption Apgar score: 6-1’ & 8-5’ Cried immediately →developed apnea. PPV given and intubated, Improved clinical status Baby passed large volume watery stool (yellow fluid) Growth parameters, vitals -normal
- 7. On examination Chest: good bilateral air entry with secretions CVS :S1 S2 normal, no murmur Abdomen: soft, distended with visible bowel loops. Liver-3 cm Normal external female genitalia CNS : normal tone, power & reflex, pupillary light reflex normal
- 8. In NICU Respiratory support (invasive/non invasive): 8 days Chest and abdomen X ray: No signs of GI atresia Serum chloride: normal since birth except on few occasions AUSS, BUSS: Normal IV antibiotics, Septic screening negative
- 9. Paed surgery: Normal findings Nil advise Paed endocrinology: False positive 17-OHP(neonatal screening) Repeat serum 17-OHP- normal
- 10. Paed gastro advice To do stool Cl, Na, K (diagnostic), CBG, pH stool, urinary sodium, serum renin and aldosterone Hydration and correct electrolyte imbalance Na and K supplementation Check electrolytes daily Calorie intake-150 cal/kg/day (according to tolerance) Success of treatment means: weight gain, stabilize serum Na, K, Cl, and improve the alkalosis
- 11. Investigations Karyotype: 46 XX(Normal) Aldosterone-N, Renin-↑ LFT, Serum osmolality- normal Urine pH, osmolality, specific gravity, Na, Cl (random): Normal Urine culture-sterile Urine reducing substance- negative Stool Sodium: 5 mmol/ random (0.5-12.5) Potassium: 6.2 mmol/ random(3.1-19.5) Chloride:4.4+(random)( 0.5-3.0) CT-Pro vasopressin (co- peptin) 5.20 pmol/L Abroad
- 12. Feeds Started on oral feeds (EBM) on day 5 of life Intermittently large watery stool (7 to 8 X) + abdominal distension Feed volume adjusted Full calories was given EBM → LBW milk, stool consistency improved Discharged on LBW milk
- 13. At the time of discharge Wt:2.965kg, HC:32.7cm General exam- normal Abdomen: distended but soft On full oral feeds ,tolerating, passing urine and formed stool S.Na:134mmol/L,K:3.6mmol/L,Cl:100mmol/L Discharge medications/plan Oral sodium Oral potassium Paed gastroenterology F/U in DH after 2/52