Cystic Fibrosis in Non-Caucasian Patients

PEDIATRICS ◽  
1968 ◽  
Vol 42 (3) ◽  
pp. 547-548
Author(s):  
Ella H. Oppenheimer ◽  
John R. Esterly

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.

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Emily DiMango ◽  
Kaitlyn Simpson ◽  
Elizabeth Menten ◽  
Claire Keating ◽  
Weijia Fan ◽  
...  

Abstract Background Evidence is conflicting regarding differential health outcomes in racial and ethnic minorities with cystic fibrosis (CF), a rare genetic disease affecting approximately 28,000 Americans. We performed a cross-sectional analysis of health outcomes in Black/Latinx patients compared with non-Hispanic Caucasian patients cared for in a CF center in New York City. Adult patients enrolled in the CF Foundation Patient Registry at the Columbia University Adult CF Program and seen at least once during 2019 were included. Health metrics were compared between Black/Latinx and non-Hispanic Caucasian patients. Results 262 patients were eligible. 39 patients (15%) identified as Black/Latinx or non-Hispanic Caucasian. Descriptive statistics are reported with mean (standard deviation). Current age was 35.9 (13.3) years for non-Hispanic Caucasian and 32.0 (9.3) years for Black/Latinx patients (p = 0.087). Age of diagnosis did not differ between groups; 9.56 (15.96) years versus 11.59 (15.8) years for non-Hispanic Caucasian versus Black/Latinx respectively (p = 0.464). Pulmonary function, measured as mean forced expiratory volume in one second (FEV1) was 70.6 (22.5) percent predicted in non-Hispanic Caucasian versus 59.50 (27.9) percent predicted in Black/Latinx patients (p = 0.010). Number of visits to the CF clinic were similar between groups. When controlled for age, gender, co-morbidities, median income, and insurance status, there was a continued association between minority status and lower FEV1. Conclusions Minorities with CF have significantly lower pulmonary function, the major marker of survival, than non-Hispanic Caucasians, even when controlled for a variety of demographic and socioeconomic factors that are known to affect health status in CF. Significant health disparities based on race and ethnicity exist at a single CF center in New York City, despite apparent similarities in access to guideline based care at an accredited CF Center. This data confirms the importance of design of culturally appropriate preventative and management strategies to better understand how to direct interventions to this vulnerable population with a rare disease.


1999 ◽  
Vol 172 (2) ◽  
pp. 517-521 ◽  
Author(s):  
L A Binkovitz ◽  
E Allen ◽  
D Bloom ◽  
F Long ◽  
S Hammond ◽  
...  

2012 ◽  
Vol 69 (4) ◽  
pp. 367-369 ◽  
Author(s):  
Aleksandar Sovtic ◽  
Predrag Minic ◽  
Radovan Bogdanovic ◽  
Natasa Stajic ◽  
Milan Rodic ◽  
...  

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.


2021 ◽  
Vol 116 (1) ◽  
pp. S724-S724
Author(s):  
Spyridon Zouridis ◽  
Omar Tageldin ◽  
Cassidy Alexandre ◽  
Joseph Choma

2008 ◽  
Vol 2 (1) ◽  
Author(s):  
Deepak Joshi ◽  
Anil Dhawan ◽  
Alistair J Baker ◽  
Michael A Heneghan

2019 ◽  
Vol 12 (6) ◽  
pp. e228821
Author(s):  
Muhammad Adnan Saleem ◽  
Aled Phillips ◽  
Muhammad Badar Ganaie

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.


2011 ◽  
Vol 31 (2) ◽  
pp. 121-123 ◽  
Author(s):  
Enayatollah Nemat Khorasani

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


2018 ◽  
Vol 5 (5) ◽  
pp. 96
Author(s):  
Bandya Sahoo ◽  
MukeshKumar Jain ◽  
Reshmi Mishra ◽  
Sibabratta Patnaik

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