Iron-deficiency anaemia, gastric hyperplasia, and elevated gastrin levels due to potassium channel dysfunction in the Jervell and Lange-Nielsen Syndrome

2012 ◽  
Vol 23 (3) ◽  
pp. 325-334 ◽  
Author(s):  
Annika Winbo ◽  
Olof Sandström ◽  
Richard Palmqvist ◽  
Annika Rydberg
Keyword(s):  
Iron Deficiency ◽  
Iron Deficiency Anaemia ◽  
Clinical Symptoms ◽  
Gastrointestinal Symptoms ◽  
Gastrin Level ◽  
P Value ◽  
Faecal Calprotectin ◽  
Deficiency Anaemia ◽  
History Of ◽  
Record Review

AbstractAimWe investigated extra-cardiac clinical symptoms and signs in the rare Jervell and Lange-Nielsen Syndrome, characterised by impairedKCNQ1function, a gene essential for gastric acid secretion.MethodsAll Swedish Jervell and Lange-Nielsen cases with doubleKCNQ1mutations (14 cases) were investigated by medical record review, an interview, and were offered laboratory testing for iron-deficiency anaemia and gastrointestinal markers.ResultsA history of iron-deficiency anaemia in 12 of 14 patients and subjective gastrointestinal symptoms in 13 of 14 patients was revealed. Previous endoscopy in five cases had revealed no case of coeliac or inflammatory bowel disease but three cases of mucosal hyperplasia/dysplasia. Current signs of anaemia or iron substitution were present in 9 of 12 tested cases. Elevated levels of gastrin in seven of nine cases, pepsinogen in six of seven cases, and faecal calprotectin in nine of nine cases were present. A significant correlation between elevated gastrin levels and concurrent iron-deficiency and/or anaemia was revealed (p-value 0.039).ConclusionsA high frequency of extra-cardiac clinical symptoms and previous medical investigations was found. We propose that the Jervell and Lange-Nielsen Syndrome phenotypically includes gastrointestinal symptoms/signs and secondary iron-deficiency anaemia owing to hypochlorhydria on the basis ofKCNQ1mutations. The resultant elevated gastrin level is a potential risk factor for later gastrointestinal cancer. Clinical monitoring with regard to developing anaemia and hypergastrinaemia should be considered in the Jervell and Lange-Nielsen Syndrome.

scholarly journals Study of outcome of the treatment with intravenous iron sucrose in moderately anaemic pregnant women

2019 ◽  
Vol 8 (9) ◽  
pp. 3480
Author(s):  
Kohila Kalimuthu ◽  
Vanusha Avudaithangam
Keyword(s):  
Standard Deviation ◽  
Iron Deficiency ◽  
Pregnant Women ◽  
Iron Deficiency Anaemia ◽  
Intravenous Iron ◽  
Iron Sucrose ◽  
P Value ◽  
Deficiency Anaemia ◽  
The Mean ◽  
The Difference

Background: Moderate anaemia seen in about 15-20% of pregnant women. Iron sucrose complex which is used intravenously for the correction of Iron deficiency anaemia. The drug has been able to raise the haemoglobin to satisfactory level when used in moderately anaemic iron deficient pregnant women. The objective of this study was to study the improvement of Hb% after treatment with intravenous Iron sucrose complex in moderately anaemic pregnant women belonging to 24-32 weeks of gestational age.Methods: 50 antenatal patients between gestational age 24-32 weeks with hemoglobin between 8-9.5g/dl were selected and included in this study. They were subjected to blood hemoglobin estimation, hematocrit and peripheral smear study. In each infusion, the maximum total dose administered was 200 mg iron sucrose in 100 ml of normal saline, slow IV infused over 30 minutes. Monitoring was done throughout the infusion to observe for any side effects.Results: Mean hemoglobin among the 50 patients before starting the therapy was 8.172g/dl and the mean hemoglobin at the end of one month of completing the therapy was 11.066g/dl. The rise in mean hemoglobin i.e. the difference in the mean hemoglobin before and after treatment was 2.894g/dl. The p value is 0.0001 which is statistically significant. The mean hematocrit of the 50 patients studied before starting the treatment was 26.772% with a standard deviation of 1.914. The mean hematocrit after completing the therapy was 33.872% with a standard deviation of 1.321. The difference in the mean hematocrit was 7.100% with a p value of 0.0001 which is statistically significant.Conclusions: Intravenous iron sucrose complex is well tolerated and highly efficacious in improving hemoglobin, hematocrit in the treatment of iron deficiency anaemia in antenatal women.

scholarly journals Unusual case of adult familial Menetrier disease in siblings

2019 ◽  
Vol 12 (10) ◽  
pp. e231175
Author(s):  
Emily Brownson ◽  
Adrian J Stanley ◽  
Prakash Konanahalli ◽  
John P Seenan
Keyword(s):  
Family History ◽  
Iron Deficiency ◽  
Gastric Mucosa ◽  
Iron Deficiency Anaemia ◽  
Unusual Case ◽  
Gastric Epithelium ◽  
Deficiency Anaemia ◽  
History Of ◽  
Mucosal Folds ◽  
Gastric Malignancy

Menetrier disease is a rare disease characterised by hyperplasia of the gastric epithelium and large gastric folds. We present a case of a 58-year-old woman who was referred with iron deficiency anaemia, with a family history of a sibling who had undergone gastrectomy for presumed gastric malignancy. Endoscopy showed prominent gastric mucosal folds and biopsies showed hyperplastic gastric mucosa, with prominent foveolar hyperplasia suggestive of Menetrier disease. Further information about her brother’s diagnosis was sought, and it was found that his pathology after gastrectomy showed diffuse glandular hyperplasia also in keeping with Menetrier disease. Adult familial Menetrier disease has so far been a rarity in the literature—review elicits five previous cases of this presentation in siblings.

Comparison between Iberet Folic® and Zincofer® in treatment of iron deficiency anaemia in pregnancy

2020 ◽  
Vol 0 (0) ◽  
Author(s):  
Muhammad Azrai Abu ◽  
Azniza Suriati Borhan ◽  
Abdul Kadir Abdul Karim ◽  
Mohd Faizal Ahmad ◽  
Zaleha Abdullah Mahdy
Keyword(s):  
Adverse Effect ◽  
Iron Deficiency ◽  
Serum Ferritin ◽  
Iron Deficiency Anaemia ◽  
Serum Ferritin Level ◽  
Controlled Trial ◽  
Ferritin Level ◽  
P Value ◽  
Deficiency Anaemia ◽  
Randomised Controlled

AbstractObjectivesTo compare the effect of Iberet Folic® and Zincofer® on haemoglobin (Hb) and serum ferritin level; and its adverse effect.MethodsThis randomised controlled trial conducted from January 2018 until December 2018. Pregnant women below 34 weeks of gestation, with Hb concentration less than 11 g/dL and serum ferritin level less than 12 ug/L were randomised to receive either one tablet Zincofer® or one tablet Iberet Folate® daily for four weeks. Both groups were compared in terms of effect on Hb level, serum ferritin level, and other haematological indices adverse effect related to treatment, and treatment cost.ResultsHundred and thirty patients were recruited in this study with 68 patients in Iberet Folic group and 62 patients in Zincofer group. The change in the Hb and serum ferritin level from baseline to day 30 did not differ significantly between treatment groups. The mean (±SD) change from baseline to day 30 was 2.15 (±0.59) g/dL in the Iberet Folic group, and 1.98 (±0.49) in the Zincofer (p value = 0.08). Mean serum ferritin at day 30 was 17.2 (±3.68) ug/L and 16.7 (±4.28) ug/L with 8.44 (±3.41) and 8.55 (±3.50) difference, respectively (p = 0.86). Adverse events were comparable in between groups, with p value >0.05. GI intolerance and constipation were among the common side effects, occurred in 34.6 and 29.2% cases, respectively.ConclusionsZincofer® offers equivalent efficacy and side effect profile in comparison with Iberet Folic® for the treatment of iron deficiency anaemia (IDA) during pregnancy, but with lower cost.

scholarly journals A case of pigmented fungiform papillae of tongue in a young female with iron deficiency anaemia

2020 ◽  
Vol 8 (3) ◽  
pp. 1145
Author(s):  
Shoiab M. Patto ◽  
Nazish M. Keena ◽  
Beenish M. Keena
Keyword(s):  
Iron Deficiency ◽  
Clinical Diagnosis ◽  
Iron Deficiency Anaemia ◽  
Young Female ◽  
Fungiform Papillae ◽  
Benign Condition ◽  
Deficiency Anaemia ◽  
History Of ◽  
Benign Nature

Fungiform papillae are red/pink, mushroom shaped projections located on the tip and dorsolateral part of tongue. It harbours several taste buds. Pigmented fungiform papillae is a not so common benign condition which involves pigment deposition in fungiform papillae. Authors report a case of 35 years female who presented with history of blackish spots over tongue for past 10 years with no other associated symptom. Patient had conjunctival pallor (moderate) and rest of the examination was normal. Investigations showed iron deficiency anaemia with Hb. of 9.5 mg/dl. A clinical diagnosis of Pigmented Fungiform Papillae (PFP) with associated Iron Deficiency Anaemia (IDA) was made. Patient was explained in detail about the benign nature of disease and was put on oral iron therapy. Follow up after 2 months was advised.

scholarly journals Hepcidin and GDF-15 are potential biomarkers of Iron Deficiency Anaemia in Chronic Kidney Disease Patients in South Africa

2020 ◽  
Author(s):  
Aishatu Muhammad Nalada ◽  
Gbenga Olorunfemi ◽  
Therese Dix-Peek ◽  
Caroline Dickens ◽  
Lungile Khambule ◽  
...  
Keyword(s):  
South Africa ◽  
Chronic Kidney Disease ◽  
Kidney Disease ◽  
Iron Deficiency ◽  
Predictive Value ◽  
Iron Deficiency Anaemia ◽  
P Value ◽  
Diagnostic Validity ◽  
Deficiency Anaemia ◽  
Ckd Stage

Abstract Background Anaemia is a common presenting feature among patients with chronic kidney disease (CKD) and it is associated with poor clinical outcomes and quality of life. It is not clear if growth differentiation factor-15 (GDF-15) or hepcidin are useful as early markers of iron deficiency anaemia (IDA) among non-dialysis CKD patients. We therefore evaluated the diagnostic validity of GDF-15 and hepcidin as biomarkers of IDA among non-dialysis CKD patients in Johannesburg, South Africa. Method An analytic cross-sectional study was conducted among non-dialysis CKD patients (n=312) and apparently healthy controls (n=184) from June to December 2016 at an Academic Hospital, in Johannesburg, South Africa. An interviewer administered proforma was used to obtain the Socio-biological and clinical characteristics of the participants. Serum levels of GDF-15 and hepcidin were determined Predictive logistic regression models were built and post estimation receiver operator characteristics was determined to evaluate diagnostic validity of hepcidin and GDF-15 for absolute and functional iron deficiency anaemia. Results About half (50.6%) of the participants were female while the participants’ mean age was 49.7 ±15.8 years. The predictive value of diagnosing absolute IDA among CKD patients using GDF-15 was 74.02% (95% CI: 67.62% - 80.42%) while the predictive value of diagnosing functional IDA among CKD patients using hepcidin was 70.1% (95% CI: 62.79% - 77.49%).There was a weak negative correlation between hepcidin levels and GFR (r=-0.19, p=0.04) in anaemic CKD patients, and between serum GDF-15 and haemoglobin (r=-0.34, p=0.001). Serum ferritin (β=0.00389, P-value<0.001), was a predictor of log hepcidin. MCHC (β= -0.0220, P-value 0.005) and CKD stage (β=0.4761, P-value <0.001), race (β = 0.3429, P-value = 0.018) were predictors of log GDF-15. Both GDF-15 (adj OR: 1.0003, 95%CI: 1.0001 – 1.0005, P=0.017) and hepcidin (adj OR: 1.003, 95%CI: 1.0004 – 1.0055, P=0.023) were associated with iron deficiency anaemia after multiple linear regression modelling.Conclusion Serum GDF-15 is a potential biomarker of absolute IDA, while hepcidin levels can predict functional IDA among CKD patients.

scholarly journals Iron deficiency anaemia in young children (6 to 23 months) in relation to complementary feeding practices in rural Telangana, India

2017 ◽  
Vol 4 (4) ◽  
pp. 1240
Author(s):  
K. Sailaja ◽  
K. Venkataramana Reddy ◽  
K. Abhishek Reddy ◽  
S. Keerthi
Keyword(s):  
Iron Deficiency ◽  
Young Children ◽  
Iron Deficiency Anaemia ◽  
Complementary Feeding ◽  
Feeding Practices ◽  
P Value ◽  
Immune Functions ◽  
Cross Sectional ◽  
Deficiency Anaemia ◽  
Young Infants

Background: Iron deficiency, is the most common micronutrient deficiency seen in all age groups throughout the world. Young infants are more vulnerable because of growing size and increased demand. Iron deficiency anaemia due to improper complementary feeding practices in young children, will affect growth, cognitive and immune functions of the growing child.Methods: A cross sectional study was conducted from 01-05-2016 to 01-02-2017, at the Department of Paediatrics, S. V. S. Medical College and Hospital, Mahabubnagar, Telangana, India. The study included 130 children attended to our well baby clinics. A questionnaire was filled by mothers after taking consent. Data was Collected data was analysed using statistical package SPSS software version-19. Chi-square test was carried to test the relation. P-Value < 0.05 was considered as significant.Results: Prolonged breast feeding, late weaning, parent’s educational status and socioeconomic status are found to significant (p value <0.05) risk factors in contributing to the development of iron deficiency anaemia.Conclusions: As young infants are more prone for iron deficiency anaemia in the later part of first year, implementation of proper complementary feeding practices as advised by Infant and Young Child Feeding practices are essential. 

scholarly journals An observational study on anaemia in children admitted to a tertiary teaching hospital with first episode of febrile seizures

2019 ◽  
Vol 6 (4) ◽  
pp. 1668
Author(s):  
Ashish Pradhan ◽  
Prerna Choudhury
Keyword(s):  
Iron Deficiency ◽  
Iron Deficiency Anaemia ◽  
Complete Blood Count ◽  
Febrile Seizures ◽  
First Episode ◽  
P Value ◽  
Deficiency Anaemia ◽  
Number Of Children ◽  
Tertiary Teaching ◽  
Significant Difference

Background: The association between anaemia and iron deficiency anaemia with febrile seizures is still not very well understood. The purpose of this study was to describe the occurrence of anaemia in children admitted with first episode of febrile seizures.Methods: This was a hospital based prospective study conducted at Central Referral Hospital, Gangtok, Sikkim, India from December 2012 to May 2014 on 50 children in the age group of 6 to 60 months admitted with first episode of febrile seizures. Detailed history and physical examination were performed and findings recorded and complete blood count, serum electrolytes and random blood sugar were done in all children. Mentzer Index was calculated from the haematological data.Results: The mean age in this study was 24.88±13.22 months. 74% of the cases were males. Twenty-eight children (56%) had anaemia out of which twenty-seven had Iron deficiency anaemia. The statistical analysis of qualitative data using Chi-square test with Yate’s correction revealed no statistically significant difference between number of children with anaemia and no anaemia (p value=0.1493) and also between number of children with Iron deficiency anaemia and children with no Iron deficiency anaemia (p value=0.4478).Conclusions: This study did not reveal a higher occurrence of anaemia as well as iron deficiency anaemia in children admitted with first episode of febrile seizures.

scholarly journals Hepcidin and GDF-15 are potential biomarkers of Iron Deficiency Anaemia in Chronic Kidney Disease Patients in South Africa

2020 ◽  
Author(s):  
AISHATU MUHAMMAD NALADO ◽  
Gbenga Olorunfemi ◽  
Therese Dix-Peek ◽  
Caroline Dickens ◽  
Lungile Khambule ◽  
...  
Keyword(s):  
South Africa ◽  
Chronic Kidney Disease ◽  
Iron Deficiency ◽  
Iron Deficiency Anaemia ◽  
P Value ◽  
Academic Hospital ◽  
Functional Iron Deficiency ◽  
Deficiency Anaemia ◽  
Absolute Iron Deficiency ◽  
Potential Biomarkers

Abstract Background Iron deficiency anaemia is a significant cause of morbidity and mortality among chronic kidney disease (CKD) patients. There is a paucity of information on the role of hepcidin and growth differentiation factor-15 (GDF-15) as potential biomarkers of iron deficiency anaemia among non-dialysis CKD patients. This study aimed to determine the utility of hepcidin and GDF-15 as biomarkers of iron deficiency among non-dialysis CKD patients at an academic hospital in Johannesburg, South Africa. Method A cross-sectional study of 312 consecutive consenting non-dialysis CKD patients and 184 controls at Charlotte Maxeke Academic Hospital was conducted from June 2016 to December 2016. Socio-demographic and clinical characteristics were recorded. Plasma hepcidin and GDF-15 were measured using mass spectrometry and ELISA, respectively. Spearman rank correlation, linear and logistic regression and receiver operator curves were utilised to evaluate the predictive and diagnostic/reference values of hepcidin and GDF-15 in absolute and functional iron deficiency anaemia. Results The mean age of participants was 49.7 ±15.8 years, and 50.6% of them were females. The predictive value of diagnosing absolute iron deficiency anaemia among CKD patients using GDF-15 was 74.02% (95% CI: 67.62% - 80.42%) while the predictive value of diagnosing functional iron deficiency anaemia among CKD patients using hepcidin was 70.1% (95% CI: 62.79% - 77.49%).There was a weak negative correlation between hepcidin levels and GFR (r=-0.19, p=0.04) in anaemic CKD patients, and between serum GDF-15 and haemoglobin (r=-0.34, p=0.001). Serum ferritin (β=0.00389, P-value<0.001), was a predictor of log hepcidin. MCHC (β= -0.0220, P-value 0.005) and CKD stage (β=0.4761, P-value <0.001), race (β = 0.3429, P-value = 0.018) were predictors of log GDF-15. Both GDF-15 (adj OR: 1.0003, 95%CI: 1.0001 – 1.0005, P=0.017) and hepcidin (adj OR: 1.003, 95%CI: 1.0004 – 1.0055, P=0.023) were associated with iron deficiency anaemia after multiple linear regression modelling. Subgroup analysis showed that GDF-15 predicted absolute iron deficiency, while hepcidin predicted functional iron deficiency anaemiaConclusion GDF-15 and hepcidin are potential predictors of iron deficiency anaemia among CKD patients.

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