scholarly journals Pearson syndrome masquerading diamond blackfan anemia: a case report

2018 ◽  
Vol 5 (6) ◽  
pp. 2353
Author(s):  
Sandip P. Bartakke ◽  
Abhilasha Ashok Sampagar ◽  
Mahesh Kamate ◽  
Nishant Mittal

Pearson syndrome (PS) is rare and often fatal multisystemic mitochondrial disorder. Many of those who survive develop signs and symptoms later in life of a related disorder called Kearns-Sayre syndrome (KSS). 13-month-old male child presented with transfusion dependent anemia since the age of 3 months and was initially labeled as a case of Diamond Black fan Anemia. Mitochondrial and pancreatic enzyme replacement therapy. Through this case report, we attempt to address the fact that possibility of PS, which is often labeled as DBA in initial stages, should be considered in cases of congenital anemia of uncertain etiology. Early diagnosis of PS and interventional therapy in the form of mitochondrial and pancreatic replacement can significantly prolong survival and improve quality of life.

F1000Research ◽  
2020 ◽  
Vol 9 ◽  
pp. 1113
Author(s):  
Saad Hasan ◽  
Haseeb Ur Rahman ◽  
Stephen Hutchison

Angiotensin converting enzyme inhibitors could lead to severe diarrhoea related to microscopic colitis. Few of such cases have been reported before and this serious problem, from a widely used class of drugs in hypertension and heart failure, needs to be more recognised. We describe the case of collagenous colitis related to ramipril use in the following case report. A 74-year-old farmer who had a history of triple vessel coronary artery disease was admitted to district general hospital with non-ST elevation myocardial infarction. He had known alcohol-related chronic pancreatitis with chronic diarrhoea as a complication, which was managed with pancreatic enzyme replacement therapy. However, he developed severe worsening of diarrhoea causing bowel incontinence and nocturnal symptoms during his admission to hospital. The explosive and watery nature of diarrhoea with urgency was so troublesome that it delayed coronary revascularisation and lead him to have significant psychological distress and low mood while nocturnal bowel motions meant he was unable to sleep. He was compliant with his pancreatic enzyme replacement therapy during this period. Infective causes were ruled out by stool microbiology examination and coeliac disease by oesophagogastroscopy and biopsy. It was noticed that he was recently prescribed ramipril that was later stopped as a possible diarrhoea trigger. Diarrhoea started settling immediately and resolved to his baseline within a week. A colonoscopy was performed in the meantime and biopsies demonstrated microscopic colitis (MC). He did not tolerate budesonide well so was stopped. However, a follow-up colonoscopy with biopsy in two months showed resolution of MC.


2021 ◽  
pp. 107815522110380
Author(s):  
Jasmine Giani ◽  
Carole R Chambers ◽  
Michael B Sawyer

Introduction Palliative care aims to improve the quality of life of patients with a life-limiting or life-threatening illness and is multifaceted involving comprehensive interdisciplinary assessments and interventions. Interdisciplinary palliative care in the setting of untreatable cancer diagnoses is of particular importance due to additional considerations that must be taken as patients are often undergoing palliative chemotherapy and/or radiation therapy. These patients' complexity warrants special considerations and attentiveness to drug-related problems. Case report The purpose of this case report is to highlight the importance of both complete and comprehensive medication histories in cancer care and the impact of proton pump inhibitors on pancreatic enzyme insufficiencies secondary to pancreatic cancers. This case involves a drug-related problem involving three medications that are commonly used in pancreatic cancer patients: pancreatic enzyme replacement therapy, a proton pump inhibitor, and a fluoroquinolone antibiotic. The patient presented in this case report is an 80-year-old man diagnosed with unresectable pancreatic cancer with a history of symptomatic gastroesophageal reflux disease managed with a proton pump inhibitor, specifically tablets of the 40 mg strength of pantoprazole magnesium taken orally once daily. During the patient's first of five 28-day cycles of palliative-intent chemotherapy with gemcitabine and nab-paclitaxel, the patient presented to the emergency department due to fever and, although not severely neutropenic, was prescribed amoxicillin/clavulanate and ciprofloxacin due to his advanced age. After reading a patient advisory on a ciprofloxacin patient information sheet that advised avoidance of concomitant administration of ciprofloxacin and magnesium, the patient self-discontinued his pantoprazole as it was a magnesium salt formulation. This discontinuation was followed by two weeks of persistent foul-smelling diarrhea, flatulence, and abdominal pain. Management and outcome The patient's healthcare team symptomatically managed the patient with oral and intravenous rehydration unaware of the cause of the symptoms. A trial of pancreatic enzyme replacement therapy was initiated; however, it was unsuccessful in resolving his symptoms. After further investigation and a more in-depth patient interview, it was discovered that the discontinued proton pump inhibitor was likely the cause of the patient's new symptoms and was subsequently re-initiated. Pancreatic enzyme replacement therapy in combination with re-initiation of pantoprazole therapy essentially resolved all symptoms. Discussion Before his diagnosis of unresectable pancreatic cancer, the patient had been on proton pump inhibitor therapy for nearly a decade. He had significant atrophy of the pancreas and an undoubtedly decreased pancreatic enzyme and bicarbonate production; however, he did not experience foul-smelling diarrhea indicative of pancreatic enzyme insufficiency while he was on his proton pump inhibitor. We believe that with his proton pump inhibitor therapy, he was unknowingly being partially treated for his worsening pancreatic enzyme insufficiency, specifically the component related to his lack of bicarbonate production and secretion. His discontinuation of his proton pump inhibitor led to a decrease in gastric acid, small bowel, and normal intraduodenal pH, which resulted in any remaining pancreatic enzyme reserve to become non-functional, unmasking his pancreatic enzyme insufficiency. An initial empiric trial of pancreatic enzyme replacement therapy failed in the absence of a proton pump inhibitor; however, within days of restarting his proton pump inhibitor along with pancreatic enzyme replacement therapy, his gastrointestinal symptoms completely resolved. This is due to the decrease of gastric and intraduodenal acidity, which better enabled the function of pancreatic enzymes present in pancreatic enzyme replacement therapy.


2010 ◽  
Vol 2010 ◽  
pp. 1-7 ◽  
Author(s):  
Michael W. Konstan ◽  
Theodore G. Liou ◽  
Steven D. Strausbaugh ◽  
Richard Ahrens ◽  
Jamshed F. Kanga ◽  
...  

Background. Pancreatic enzyme replacement therapy is the standard of care for treatment of malabsorption in patients with cystic fibrosis (CF) and exocrine pancreatic insufficiency (PI).Aim. To evaluate efficacy and safety of a new formulation of pancrelipase (Ultrase MT20) in patients with CF and PI. Coefficients of fat absorption (CFA%) and nitrogen absorption (CNA%) were the main efficacy parameters. Safety was evaluated by monitoring laboratory analyses, adverse events (AEs), and overall signs and symptoms.Methods. Patients (n=31) were randomized in a crossover design comparing this pancrelipase with placebo during 2 inpatient evaluation periods (6-7 days each). Fat and protein/nitrogen ingestion and excretion were measured from food diaries and 72-hour stool collections. CFA% and CNA% were calculated for each period and compared.Results. Twenty-four patients provided analyzable data. This pancrelipase increased mean CFA% and CNA% (+34.7% and +25.7%, resp.,P<.0001for both), reduced stool frequency, and improved stool consistency compared with placebo. Placebo-treated patients reported more AEs, with gastrointestinal symptoms being the most frequently reported AE.Conclusions. This pancrelipase is a safe and effective treatment for malabsorption associated with exocrine PI in patients with CF.


Pancreas ◽  
2021 ◽  
Vol 50 (9) ◽  
pp. 1254-1259
Author(s):  
Lindsay E. Carnie ◽  
Kelly Farrell ◽  
Natalie Barratt ◽  
Marc Abraham ◽  
Loraine Gillespie ◽  
...  

2021 ◽  
Vol 4 (2) ◽  
pp. 84-93
Author(s):  
Muzal Kadim ◽  
William Cheng

Background Cystic fibrosis (CF) is an inherited genetic disorder with high mortality and morbidity. CF is strongly correlated with malnutrition due to higher energy losses, pancreatic insufficiency, chronic inflammation, higher resting energy expenditure, and feeding problems. Malnutrition in CF patients associated with worse survival. Thus, appropriate and prompt nutritional intervention should be addressed to reduced malnutrition in CF patients. Methods The literature search was performed on 9 August 2021 in four major databases such as MEDLINE, EBSCOhost, Cochrane Reviews, and Web of Sciences to find the role of nutrition and pancreatic enzyme replacement therapy in pediatrics population with cystic fibrosis. Recent findings In recent decades, early nutritional management and pancreatic enzyme replacement therapy (PERT) have been shown to improve CF patient’s outcomes. Nutrition should be given in higher calories compared to healthy individuals with close and regular nutritional status monitoring. High protein and fat diets are essential for CF patient’s overall survival. Adequate level of micronutrients should be ensured to avoid morbidity caused by micronutrients deficiency. Regular pancreatic insufficiency screening should be done annually in order to start PERT early.  Further research focusing on body composition, growth chart, protein intake, and PERT are needed to further improve the management of CF patient. Conclusion Nutritional intervention and PERT play an important role in prolonging CF patient survival. Both treatments should be initiated early with nutritional status close monitoring and tailored to each individual. Collaboration with parents and children is critical to warrant that CF patients followed the dietary advice.


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