A Mutation Leading to Atypical Presentation of Cystic Fibrosis: D1152H CFTR Mutation and Clinical Characteristic of the Patients

Introduction. Infants with cystic fibrosis may fail to thrive despite recommended caloric intake because of electrolyte disurbances caused by salt depletion resulting in hypochloremic metabolic alkalosis or pseudo-Bartter's syndrome. In most patients reported symptoms began in infancy, but it may be an initial presentation of disease in a previously healthy adolescent. Case report. A 15-year-old boy was admitted for evaluation of recurrent episodes of malaise associated with dehydration and acute renal insufficiency. Laboratory analysis showed hypochloremic metabolic alkalosis with hyponatremia and hypokalemia. On admission the boy was obese, with body weight of 95.5 kg (> P97), height 174 cm (> P75), and body mass index of 31.2 kg/m2 (> P95). Physical examination was inconclusive. Blood pressure holter monitoring proved significant systolic hypertension. Routine urinalysis, protein and electrolyte levels in urine were normal. Plasma renin and aldosteron were normal. Sweat chloride concentration was 63 mmol/L. Genetic testing confirmed the diagnosis of cystic fibrosis. Conclusion. To our knowledge, this is the first reported case of atypical presentation of cystic fibrosis in an adolescent presented with pseudo-Bartter's syndrome and signs of obesity and hypertension. We suggest that every patient with hypochloremic metabolic alkalosis should be evaluated for cystic fibrosis.

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S1609 Atypical Presentation of Ascending Cholangitis in a Patient with Cystic Fibrosis

The American Journal of Gastroenterology ◽

10.14309/01.ajg.0000779968.23603.70 ◽

2021 ◽

Vol 116 (1) ◽

pp. S724-S724

Author(s):

Spyridon Zouridis ◽

Omar Tageldin ◽

Cassidy Alexandre ◽

Joseph Choma

Keyword(s):

Cystic Fibrosis ◽

Atypical Presentation ◽

Ascending Cholangitis

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Cystic Fibrosis in Non-Caucasian Patients

PEDIATRICS ◽

10.1542/peds.42.3.547a ◽

1968 ◽

Vol 42 (3) ◽

pp. 547-548

Author(s):

Ella H. Oppenheimer ◽

John R. Esterly

Keyword(s):

Cystic Fibrosis ◽

American Indian ◽

Johns Hopkins Hospital ◽

Pedigree Information ◽

Atypical Presentation ◽

Caucasian Patients

The interpretation of a condition in genetically unusual circumstances is often handicapped by an atypical presentation, unusual course (variable penetrace?), or incomplete pedigree information, in addition to the constant hazard of unknown illegitimacy. For these reasons, the thorough study of two American Indian families with cystic fibrosis of the pancreas (Harris and Riley, Pediatrics, 41:733, 1968) is particularly valuable. The report prompted us to review the less satisfactorily documented non-caucasian patients with cystic fibrosis autopsied in the Johns Hopkins Hospital.

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An atypical presentation of cystic fibrosis: a case report

Journal of Medical Case Reports ◽

10.1186/1752-1947-2-201 ◽

2008 ◽

Vol 2 (1) ◽

Cited By ~ 5

Author(s):

Deepak Joshi ◽

Anil Dhawan ◽

Alistair J Baker ◽

Michael A Heneghan

Keyword(s):

Cystic Fibrosis ◽

Case Report ◽

Atypical Presentation

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Atypical presentation of cystic fibrosis at 70 years of age

BMJ Case Reports ◽

10.1136/bcr-2018-228821 ◽

2019 ◽

Vol 12 (6) ◽

pp. e228821

Author(s):

Muhammad Adnan Saleem ◽

Aled Phillips ◽

Muhammad Badar Ganaie

Keyword(s):

Cystic Fibrosis ◽

Staphylococcus Aureus ◽

Pseudomonas Aeruginosa ◽

Lower Incidence ◽

Autosomal Recessive ◽

Organ Involvement ◽

Atypical Presentation ◽

Recessive Condition ◽

Autosomal Recessive Condition ◽

Single Organ

Cystic fibrosis (CF) is an autosomal recessive condition, mostly diagnosed in infancy. It is uncommon for adults to be diagnosed with CF, especially after the age of 65. Individuals, who are diagnosed later in life, usually have milder disease and single organ involvement which can be challenging for clinicians to diagnose. Adult CF patients are more likely to be pancreatic sufficient. They have predominantly upper lobe bronchiectasis, lower incidence of Pseudomonas aeruginosa compared with Staphylococcus aureus and are more likely to have mutations other than ΔF508.

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Case of Pseudo-Bartter's Syndrome: An atypical presentation of cystic fibrosis

Journal of Nepal Paediatric Society ◽

10.3126/jnps.v31i2.3911 ◽

2011 ◽

Vol 31 (2) ◽

pp. 121-123 ◽

Cited By ~ 1

Author(s):

Enayatollah Nemat Khorasani

Keyword(s):

Cystic Fibrosis ◽

Key Words ◽

Metabolic Alkalosis ◽

Atypical Presentation ◽

Bartter’S Syndrome ◽

Bartter's Syndrome ◽

In The Beginning

A three months infant who in the beginning had disease cystic fibrosis was diagonosed with pseudo-bartter's syndrome. The disease began with coughing, diarrhoea, vomiting and weakness. Investigation revealed; electrolytes showin hyponatremia (110 mmol/L) and hypokalemic (2.6 mmol/L) and hypochloremic (63 mmol/L) metabolic alkalosis (HCO3=43 mmol/L). Key words: Pseudo Bartter's Syndrome; Cystic fibrosis; Metabolic alkalosis. DOI: 10.3126/jnps.v31i2.3911 J Nep Paedtr Soc 2010;31(2):121-123

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Impact of Gender on Clinical Characteristic, Treatment and Outcome in ST Elevation Myocardial Infarction: A Hospital Based Study from North-Eastern India

Journal of Integrative Cardiology Open Access ◽

10.31487/j.jicoa.2021.03.06 ◽

2021 ◽

pp. 1-5

Author(s):

Farhin Iqbal ◽

Bornali Dutta ◽

J.C. Barkataki ◽

Waseem Farooqui ◽

...

Keyword(s):

Myocardial Infarction ◽

Clinical Presentation ◽

St Elevation Myocardial Infarction ◽

Atypical Presentation ◽

Eastern India ◽

North Eastern ◽

St Elevation ◽

North Eastern India ◽

Clinical Characteristic ◽

High Bmi

Background: Data on impact of gender on clinical presentation of ST Elevation Myocardial Infarction (STEMI) are sparse in our country. Gender related difference in STEMI has never been studied in North-Eastern India. Aim: The present study was undertaken to study the impact of gender on clinical characteristic, treatment and outcome in STEMI. Methods: We prospectively collected data of 510 STEMI patients from February 2011 to August 2012 in Gauhati Medical College, a tertiary care center in North-Eastern India. We evaluated data on impact of gender in clinical characteristic, treatment, and outcome in STEMI patients. Results: A total of 510 cases of STEMI were included. Females in STEMI were older (53.6 years in males compared to 58 years in females, P<0.001) and have greater atypical presentation (31.6% in females and 13.98% in males, P<0.001). Females also have higher mean time to presentation and higher incidence of diabetes, dyslipidemia, hypertension and high BMI, whereas males had higher incidence of smoking. Females are less likely to undergo thrombolysis (28.73% in females compared to 44.34% in males, p=0.04) and revascularization (17.5% in males and 9.1% in females p-0.01) during index hospitalization, but standard medical therapy was similar. Women were also more likely to develop heart failure either at presentation or at 30 days and also had a higher 30-day mortality (15.5% in female and 9.8% in male, p value-0.06). Conclusion: This study represents the first reported study on impact of gender on clinical presentation of STEMI from North-Eastern India and has observed that females have a higher mean age of presentation, higher incidence of atypical presentation, diabetes, dyslipidemia, hypertension and high BMI. Females also present later than males, though statistically not significant and also less likely to receive thrombolysis and revascularization than males. The 30-day mortality was also higher in females.

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