scholarly journals Prenatal and Postnatal Manifestations of Congenital Chloride Diarrhea Due to a Heterozygote Variant of the SLC26A3 Gene: A Case Report

2021 ◽  
Vol 9 ◽  
Author(s):  
Izabela Cendal ◽  
Agnieszka Szafrańska ◽  
Tomasz Fuchs ◽  
Dariusz Patkowski ◽  
Robert Smigiel ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Preterm Labor ◽  
Metabolic Alkalosis ◽  
Abdominal Distension ◽  
Watery Diarrhea ◽  
Recessive Mutation ◽  
Stool Examination ◽  
Severe Diarrhea ◽  
Congenital Chloride Diarrhea ◽  
Median Laparotomy

Congenital chloride diarrhea (CCD) is caused by a recessive mutation in the SLC26A3 gene and characterized mainly by watery diarrhea, hypochloremia and metabolic alkalosis. Various different mutations in SLC26A3 are responsible for the disease. In the prenatal period, the symptoms of CCD may include polyhydramnios, preterm labor and abdominal distension. The main feature of CCD is chloride-rich diarrhea, which leads to excessive loss of fluid and salt immediately after birth and is followed by weight loss and dehydration. Hyponatremia and hypochloremia are soon accompanied by hypokalemia and metabolic alkalosis. Untreated CCD is fatal even in the first weeks of life. Diagnosis is made by high fecal chloride concentrations in patients with serum electrolytes corrected by salt substitution and confirmed using genetic testing of peripheral blood samples. Here, we detail prenatal and postnatal manifestations of a preterm infant, born via Caesarian section, who was suspected to suffer intrauterine bowel obstruction. Upper median laparotomy was performed and no intestinal abnormalities found. The course of the neonatal period was complicated by severe diarrhea with hypochloremia, hyponatremia and metabolic alkalosis. Based on the patient's clinical picture and stool examination, a diagnosis of CCD was established. Mutation of the SLC26A3 gene was confirmed using genetic testing.

scholarly journals Diarrhea in an infant due to Shigella flexneri 1 carrying multiple cephalosporinase-encoding genes

Gut Pathogens ◽  
2021 ◽  
Vol 13 (1) ◽  
Author(s):  
M. John Albert ◽  
Prashant Purohit ◽  
Laurent Poirel ◽  
Glen Carter ◽  
Dieter Bulach
Keyword(s):  
Shigella Flexneri ◽  
Multidrug Resistant ◽  
Stool Culture ◽  
Whole Genome Sequence ◽  
Watery Diarrhea ◽  
Severe Diarrhea ◽  
Amoxicillin Clavulanic Acid ◽  
One Year ◽  
Multiple Resistance Genes ◽  
Encoding Genes

Abstract Background Infections caused by multidrug-resistant shigellae resistant to broad-spectrum cephalosporins are becoming more prevalent in the Middle East. We report a case of severe diarrhea due to a multiresistant Shigella flexneri 1 strain carrying four different ß-lactamase genes. Case presentation A one-year-old Syrian infant presented with severe acute diarrhea, vomiting and dehydration. She did not respond to empirical treatment with amoxicillin-clavulanic acid followed by cefotaxime. Later, stool culture revealed S. flexneri 1 resistant to both these drugs. The patient was successfully treated with meropenem to which S. flexneri 1 was susceptible. The isolate was resistant to eight classes of antibiotics, and the whole genome sequence (WGS) identified four ß-lactamase genes (blaCTX-M-15, blaEC-8, blaOXA-1, and blaTEM-1) along with genes mediating resistance to seven other antibiotic classes. The WGS also identified several virulence genes including senA that encodes ShET-2 which induces watery diarrhea. Phylogenetically, the isolate was closely related to isolates from South Asia. Conclusions This report highlights the emergence of extremely resistant Shigella that has acquired multiple resistance genes to cephalosporins rendering these drugs ineffective.

scholarly journals Case Report on a Rare Disease in Lithuania: Congenital Chloride Diarrhea

2018 ◽  
Vol 08 (01) ◽  
pp. 024-026 ◽  
Author(s):  
Olga Liaugaudiene ◽  
Dalia Stoniene ◽  
Ruta Kucinskiene ◽  
Christophe Buffat ◽  
Virginija Asmoniene
Keyword(s):  
Rare Disease ◽  
Molecular Genetic ◽  
Electrolyte Imbalance ◽  
Secretory Diarrhea ◽  
Watery Diarrhea ◽  
Founder Mutations ◽  
Adequate Treatment ◽  
Surgical Interventions ◽  
Congenital Chloride Diarrhea ◽  
Long Term Prognosis

AbstractCongenital chloride diarrhea (CCD) is a rare disease, manifesting with secretory diarrhea and life-threatening electrolyte imbalance during infancy. The early diagnosis of CCD is therefore necessary for the adequate treatment. The long-term prognosis of properly managed CCD is favorable. We present a case of complicated CCD with necrotizing enterocolitis. The child was born to nonconsanguineous parents of Lithuanian origin. CCD was suspected due to watery diarrhea, progressive hypochloremia, and high fecal chlorides. Despite oral electrolytes being prescribed, volvulus of small intestine developed requiring several surgical interventions. The clinical diagnosis of CCD was confirmed by molecular genetic testing of SLC26A3, which revealed two Polish founder mutations in the DNA of the patient. The prevalence of CCD in Lithuanian neighbor Poland is approximately 1 in 200,000 live births. This is the first described case of CCD in Lithuania to our knowledge, leading to the suggestion that this disease may be underdiagnosed.

scholarly journals Use of Aldosterone Antagonist to Treat Diarrhea and Hypokalemia of Ogilvie’s Syndrome

2016 ◽  
Vol 2016 ◽  
pp. 1-3 ◽  
Author(s):  
Pradhum Ram ◽  
Abhinav Goyal ◽  
Marvin Lu ◽  
Joshua Sloan ◽  
William McElhaugh
Keyword(s):  
Marked Improvement ◽  
Colonic Mucosa ◽  
Abdominal Distension ◽  
Bk Channels ◽  
Watery Diarrhea ◽  
Ogilvie's Syndrome ◽  
High Potassium ◽  
Ogilvie’S Syndrome ◽  
Aldosterone Antagonist ◽  
Neck Fracture

Ogilvie’s syndrome (OS) is a functional obstruction of the bowel due to an autonomic imbalance. It often presents with diarrhea and is associated with hypokalemia. We present a case of a 70-year-old male who developed severe abdominal distension, watery diarrhea, and persistent hypokalemia status after left hip arthroplasty after suffering from a femoral neck fracture due to a fall and was diagnosed with OS. The persistent hypokalemia was slow to improve despite aggressive repletion because of the high potassium losses in the stool. This is most likely mediated through the increased expression of BK channels in the colonic mucosa. Aldosterone is theorized to have a role in the regulation of BK channels. Spironolactone was subsequently given and resulted in marked improvement of the diarrhea and hypokalemia. Thus, this case suggests a novel therapeutic approach for the treatment of Ogilvie’s syndrome-associated diarrhea and hypokalemia.

scholarly journals Wolcott-Rallison syndrome in Iran: a common cause of neonatal diabetes

2019 ◽  
Vol 32 (6) ◽  
pp. 607-613 ◽  
Author(s):  
Samaneh Noroozi Asl ◽  
Rahim Vakili ◽  
Saba Vakili ◽  
Fahimeh Soheilipour ◽  
Mahin Hashemipour ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Molecular Genetics ◽  
Genetic Screening ◽  
Autosomal Recessive Disorder ◽  
Neonatal Diabetes ◽  
Translation Initiation Factor ◽  
Iranian Population ◽  
Initiation Factor ◽  
Recessive Mutation ◽  
Gene Encoding

Abstract Background Wolcott-Rallison syndrome is a rare autosomal recessive disorder characterized by neonatal/early-onset non-autoimmune insulin-dependent diabetes, multiple epiphyseal dysphasia and growth retardation. It is caused by mutations in the gene encoding eukaryotic translation initiation factor 2α kinase 3 (EIF2AK3). We aimed to study the clinical characteristics and frequency of the disease in the Iranian population. Methods We recruited 42 patients who referred to the endocrine and metabolism clinic at Mashhad Imam Reza Hospital with neonatal diabetes. Molecular screening of KCNJ11, INS, ABCC8 and EIF2AK3 was performed at the Exeter Molecular Genetics Laboratory, UK. We calculated the frequency of the disease in 124 patients referred from Iran to the Exeter Molecular Genetics Laboratory for genetic screening and compared it to other countries worldwide. Results We identified seven patients as having Wolcott-Rallison syndrome. Genetic testing confirmed the clinical diagnosis and indicated five novel mutations. Only two patients developed clinical features of the syndrome by 6 months of age. Of all 124 cases of Iranian neonatal diabetes referred to the Exeter Molecular Genetics Laboratory for genetic screening, 28 patients (22.58%) had a recessive mutation in EIF2AK3. Conclusions The results of this study raises awareness of the condition and provides further accurate data on the genetic and clinical presentation of Wolcott-Rallison syndrome in the Iranian population. Our study highlights the importance of genetic testing in patients from consanguineous families with diabetes diagnosed within the first 6 months of life.

scholarly journals First Detection and Clinical Presentation of Porcine Epidemic Diarrhea Virus (Pedv) in Serbia

2017 ◽  
Vol 67 (3) ◽  
pp. 383-396 ◽  
Author(s):  
Jasna Prodanov-Radulović ◽  
Tamaš Petrović ◽  
Diana Lupulović ◽  
Doroteja Marčić ◽  
Jelena Petrović ◽  
...  
Keyword(s):  
Clinical Signs ◽  
Feed Consumption ◽  
Watery Diarrhea ◽  
Weaned Piglets ◽  
Diarrhea Virus ◽  
Severe Diarrhea ◽  
Group A ◽  
Suckling Piglets ◽  
Fecal Content ◽  
Vojvodina Province

AbstractDuring 2015/2016, fecal and intestinal samples from live diseased and/or dead pigs with suspected PEDV and/or TGEV and signs of rotavirus infection were collected from in total seven different farrow-to-finish swine farms located in Northern Serbia region (Vojvodina Province). A total of 14 samples (2 pools per farm) of small intestine with fecal content were submitted to laboratory molecular investigation (multiplex RTPCR). On these farms the clinical signs included the occurrence of diarrhea in suckling and weaned piglets, with weak or no response to the applied antimicrobial therapy. The epidemic of severe diarrhea affecting pigs of all ages on one farrow-to finish swine farm was detected in January 2016. Watery diarrhea in all swine categories was associated with vomiting and a reduction in feed consumption. Diarrheic, gaunt and dehydrated piglets, covered with feces were found in 90% litters. The disease affected most severely the suckling piglets, and the mortality in newborn piglets was up to 35%. In the weaned piglets and fatteners the mortality was up to 2.5% and 1.2%, respectively. The PEDV RNA was detected in pooled feces and samples of small intestines derived from diseased and dead suckling piglets from only one investigated farm. The PEDV positive samples showed to be negative for rotavirus group A and TGEV. The transport vehicles were identified as the main possible route of PEDV introduction. This is the first report demonstrating the presence of PEDV in Serbia.

scholarly journals Recurrent Metabolic Alkalosis in a Cystic Fibrosis Patient: Coexistence with Congenital Chloride Diarrhea

2019 ◽  
Vol 09 (01) ◽  
pp. 044-047
Author(s):  
Etna Masip ◽  
Ester Donat ◽  
Begoña Polo ◽  
Silvestre Oltra ◽  
Pedro Ortega ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Genetic Analysis ◽  
Cystic Fibrosis Patient ◽  
Metabolic Alkalosis ◽  
Intravenous Fluids ◽  
Extended Study ◽  
Treatment Patient ◽  
Congenital Chloride Diarrhea ◽  
Accurate Treatment ◽  
Rule Out

AbstractMetabolic alkalosis is uncommon in infancy. Cystic fibrosis (CF) patients can develop dehydration because of sweat salt or gastrointestinal losses; with the correct salt supplementation, the electrolyte alterations can be reversed. Here, we present a CF patient with recurrent metabolic alkalosis, initially oriented as pseudo-Bartter's syndrome. However, despite accurate treatment, patient needed daily intravenous fluids to maintain homeostasis. An extended study was made, including a urine study that could rule out Bartter's diagnosis. Finally, after a complementary test that included electrolyte stools study and genetic analysis, congenital chloride diarrhea could be diagnosed.

scholarly journals Blastocystissp. Infection Mimicking Clostridium Difficile Colitis

2016 ◽  
Vol 2016 ◽  
pp. 1-2
Author(s):  
Gaby S. Gil ◽  
Shobhana Chaudhari ◽  
Ahmed Shady ◽  
Ana Caballes ◽  
Joe Hong
Keyword(s):  
Clostridium Difficile ◽  
Stool Culture ◽  
Stool Examination ◽  
Severe Diarrhea ◽  
Clostridium Difficile Toxin ◽  
Clostridium Difficile Colitis ◽  
Clostridium Difficile Toxin B ◽  
Stage Renal Disease ◽  
End Stage ◽  
Work Up

We report an unusual case of severe diarrhea related toBlastocystissp. infection in a patient with end stage renal disease on hemodialysis. The patient was admitted due to profuse diarrhea associated with fever and leukocytosis. Pertinent stool work-up such as leukocytes in stool, stool culture, clostridium difficile toxin B PCR, and serology for hepatitis A, hepatitis B, and hepatitis C and cytomegalovirus screening were all negative. Ova and parasite stool examination revealedBlastocystissp. The patient was given intravenous metronidazole with clinical improvement by day three and total resolution of symptoms by day ten.

scholarly journals Consensus Report on Shigella Controlled Human Infection Model: Clinical Endpoints

2019 ◽  
Vol 69 (Supplement_8) ◽  
pp. S591-S595 ◽  
Author(s):  
Calman A MacLennan ◽  
Mark S Riddle ◽  
Wilbur H Chen ◽  
Kawsar R Talaat ◽  
Varsha Jain ◽  
...  
Keyword(s):  
Primary Endpoint ◽  
Working Group ◽  
Shigella Flexneri ◽  
The United States ◽  
Human Infection ◽  
Watery Diarrhea ◽  
Infection Model ◽  
Antibiotic Administration ◽  
Severe Diarrhea ◽  
Clinical Endpoints

Abstract The Shigella controlled human infection model (CHIM) is valuable for assessing candidate Shigella vaccine efficacy and potentially accelerating regulatory approval. The Shigella CHIM is currently being conducted at 3 sites in the United States using Shigella flexneri 2a strain 2457T and Shigella sonnei strain 53G. Shigellosis can present variably as watery diarrhea alone or with dysentery, and can be accompanied by manifestations including fever, abdominal cramps, tenesmus, and malaise. For comparability, it is important to harmonize the primary clinical endpoint. An expert working group was convened on 2 February 2018 to review clinical data from Shigella CHIM studies performed to date and to develop a consensus primary endpoint. The consensus endpoint enabled “shigellosis” to present as severe diarrhea or moderate diarrhea or dysentery. The latter 2 criteria are met when concurrent with fever of 38.0°C and/or vomiting, and/or a constitutional/enteric symptom graded at least as “moderate” severity. The use of a blinded independent committee to adjudicate the primary endpoint by subject was also regarded as important. As safety of volunteers in challenge studies is of paramount importance and treatment timing can affect primary outcomes, a standard for early antibiotic administration was established as follows: (1) when the primary endpoint is met; (2) if a fever of ≥39.0°C develops; or (3) if the study physician deems it appropriate. Otherwise, antibiotics are given at 120 hours postinfectious challenge. The working group agreed on objective and subjective symptoms to be solicited, and standardized methods for assessing subject-reported severity of symptoms.

scholarly journals A Unique Case of Mycophenolate Induced Colitis after 10 Years of Use

2016 ◽  
Vol 2016 ◽  
pp. 1-3
Author(s):  
Abhinav Goyal ◽  
Moiz Salahuddin ◽  
Yogesh Govil
Keyword(s):  
Mycophenolate Mofetil ◽  
Lupus Nephritis ◽  
Side Effect ◽  
Flexible Sigmoidoscopy ◽  
Abdominal Distension ◽  
Watery Diarrhea ◽  
Common Side Effect ◽  
Unique Case ◽  
Gaseous Distension ◽  
History Of

A 31-year-old female with a history of lupus nephritis on Hydroxychloroquine, Prednisone, and Mycophenolate Mofetil (MMF) for 10 years presented to the hospital for ankle swelling. On day four, she started to have severe, nonbloody, watery diarrhea with abdominal distension and tenderness. Stool PCR was negative forC. difficile.CT abdomen/pelvis showed gaseous distension of the colon without any obstruction. Flexible sigmoidoscopy revealed a normal looking mucosa. Histopathology showed crypt atrophy and increased crypt apoptosis, consistent with MMF colitis. The diarrhea resolved three days after stopping MMF. Although generally well tolerated, diarrhea is a common side effect of MMF. Most cases occur in the first six months of starting MMF. This case is unique because it describes MMF colitis in lupus after more than 10 years. Thus, MMF colitis should be considered as a differential in patients taking it, regardless of the duration of use.

scholarly journals Assessment of episodes of pneumonia and diarrhea in vaccinated and unvaccinated children under 60 months of age

2020 ◽  
Vol 36 (7) ◽  
Author(s):  
Shireen Qassim Bham ◽  
Farhan Saeed ◽  
Muhammad Athar Khan ◽  
Rashid Naseem Khan
Keyword(s):  
Severe Pneumonia ◽  
Cross Sectional Study ◽  
Watery Diarrhea ◽  
P Value ◽  
Sample Population ◽  
Cross Sectional ◽  
Creative Commons ◽  
Severe Diarrhea ◽  
Rotavirus Vaccination ◽  
Selection Of

Objective: To assess the episodes of pneumonia and diarrhea in vaccinated and unvaccinated children under 60 months of age. Methods: This descriptive cross-sectional study was carried out at Darul Sehat Hospital and SESSI, Karachi in the Department of Pediatrics from 1st November 2018 to 3rd February 2019. An interview based questionnaire was administered and selection of participants was done by convenience sampling. Total of 196 participants were selected for interview. Results: Total 196 participants were interviewed which included mothers of children between the age group of 1- 60 months. The questions were entered on the questionnaire after taking consent from the mothers. Among them, males were 98 (52.7%) and females were 88(47.3%). One hundred seventy two (88.7%) children were vaccinated for pneumococcal and rotavirus whereas unvaccinated children were 22(11.3%). There was an incidence of 66(63.5%) for loose watery diarrhea. In vaccinated children, grading of diarrhea was found to be severe cases as 30 (34.9%), moderate cases as 27 (31.4%) and mild cases as 29(33.7%). For unvaccinated children, severe cases were 12 (66.7%) and for mild and moderate cases were (11.1%) and 04(22.2%) respectively with p value of 0.035. As compared to their unvaccinated counterparts, the frequency of severe pneumonia was far less than cough and cold in vaccinated children (p<0.001) Conclusion: There is significant reduction in cases of severe pneumonia in children receiving pneumococcal vaccine as compared to children receiving Rota vaccine there is moderate reduction in cases of severe diarrhea. The overall coverage of Pneumococcal and Rota vaccines was higher in our sample population. Efforts should be made to increase the awareness of Rotavirus vaccination in order to have better coverage in future. doi: https://doi.org/10.12669/pjms.36.7.2996 How to cite this:Bham SQ, Saeed F, Khan MA, Khan RN. Assessment of episodes of pneumonia and diarrhea in vaccinated and unvaccinated children under 60 months of age. Pak J Med Sci. 2020;36(7):---------. doi: https://doi.org/10.12669/pjms.36.7.2996 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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