scholarly journals Asymptomatic hyponatremic hypochloremic metabolic alkalosis: An unusual initial presentation of Cystic Fibrosis in an infant

2018 ◽  
Vol 4 (8) ◽  
Author(s):  
Upma Suneja ◽  
Akhila Mandadi ◽  
Lil Rodriguez ◽  
George Vermenton ◽  
Jayendra Sharma
Keyword(s):  
Cystic Fibrosis ◽  
Metabolic Alkalosis ◽  
Initial Presentation

scholarly journals Cystic fibrosis presenting as metabolic alkalosis in a boy with the rare D579G mutation

2004 ◽  
Vol 3 (2) ◽  
pp. 135-136 ◽  
Author(s):  
Donatello Salvatore ◽  
Rossella Tomaiuolo ◽  
Rosaria Abate ◽  
Borghina Vanacore ◽  
Sergio Manieri ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Metabolic Alkalosis

scholarly journals Can newborn screening be cost benefit procedure if preventing serious complications of cystic fibrosis?

2021 ◽  
pp. 020-023
Author(s):  
Šubat-Dežulović Mirna ◽  
Pelčić Gordana ◽  
Valković Ana ◽  
Flajšman-Raspor Sanja ◽  
Pelčić Goran ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Newborn Screening ◽  
Metabolic Alkalosis ◽  
Cost Benefit ◽  
Inherited Disease ◽  
Eu Countries ◽  
Life Threatening ◽  
Long Term Prognosis ◽  
The Cost

Cystic Fibrosis (CF) is a common inherited disease with reported mean prevalence of 0.737/10,000 in 27 EU countries (Farrell J Cyst Fibros. 2008). Still, many EU countries have not implemented CF in the Newborn Screening (NBS) programme, including our country. We report the case of a 7-month-old boy whose presenting signs of CF were life-threatening neurological symptoms caused by severe metabolic alkalosis and hypoelectrolytemia. By presenting this case, we argue hoping to persuade the authorities in any country that the available newborn screening for CF is the cost benefit procedure in preventing life treating consequences with the obvious impact on the long-term prognosis of this chronic disease.

scholarly journals Cystic Fibrosis with Severe Anaemia and Hypoproteinaemia

2019 ◽  
Vol 38 (2) ◽  
pp. 118-121
Author(s):  
Md Abu Bakkar Siddique ◽  
Kalimuddin Khan ◽  
Aparajita Bera ◽  
Sudipta Ghorai ◽  
Jasmine Mallik ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Respiratory Symptoms ◽  
Severe Anaemia ◽  
Initial Presentation ◽  
Elastase Level ◽  
Symptoms And Signs

The presentation of cystic fibrosis (CF) is dependent upon which organs are affected. Severe anaemia is reported to occur rarely in patients with CF. We are presenting a case of 2 months old infant admitted with anaemia, malnutrition, hypoproteinaemia and hypoalbuminaemia, without any pulmonary symptoms at the initial presentation. Abnormal sweat chlorides and low faecal elastase level confirmed the diagnosis of CF. Respiratory symptoms and signs developed later on further follow up.

Metabolic alkalosis and salt depletion in cystic fibrosis

1973 ◽  
Vol 82 (3) ◽  
pp. 535-536 ◽  
Author(s):  
S.N. Arvanitakis ◽  
C.C. Lobeck
Keyword(s):  
Cystic Fibrosis ◽  
Metabolic Alkalosis ◽  
Salt Depletion

scholarly journals Downregulation of the Cl-/HCO3-Exchanger Pendrin in Kidneys of Mice with Cystic Fibrosis: Role in the Pathogenesis of Metabolic Alkalosis

2018 ◽  
Vol 45 (4) ◽  
pp. 1551-1565 ◽  
Author(s):  
Mujan Varasteh Kia ◽  
Sharon Barone ◽  
Alicia A. McDonough ◽  
Kamyar Zahedi ◽  
Jie Xu ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Metabolic Alkalosis ◽  
Collecting Duct ◽  
Cortical Collecting Duct ◽  
Acid Base ◽  
Volume Depletion ◽  
Northern Blots ◽  
Western Blots ◽  
Salt Restriction ◽  
Immunofluorescence Labeling

Background/Aims: Patients with cystic fibrosis (CF) are prone to the development of metabolic alkalosis; however, the pathogenesis of this life threatening derangement remains unknown. We hypothesized that altered acid base transport machinery in the kidney collecting duct underlies the mechanism of impaired bicarbonate elimination in the CF kidney. Methods: Balance studies in metabolic cages were performed in WT and CFTR knockout (CF) mice with the intestinal rescue in response to bicarbonate loading or salt restriction, and the expression levels and cellular distribution of acid base and electrolyte transporters in the proximal tubule, collecting duct and small intestine were examined by western blots, northern blots and/or immunofluorescence labeling. Results: Baseline parameters, including acid-base and systemic vascular volume status were comparable in WT and CF mice, as determined by blood gas, kidney renin expression and urine chloride excretion. Compared with WT animals, CF mice demonstrated a significantly higher serum HCO3- concentration (22.63 in WT vs. 26.83 mEq/l in CF mice; n=4, p=0.013) and serum pH (7.33 in WT vs. 7.42 in CF mice; n=4, p=0.00792) and exhibited impaired kidney HCO3- excretion (urine pH 8.10 in WT vs. 7.35 in CF mice; n=7, p=0.00990) following a 3-day oral bicarbonate load. When subjected to salt restriction, CF mice developed a significantly higher serum HCO3- concentration vs. WT animals (29.26 mEq/L in CF mice vs. 26.72 in WT; n=5, p=0.0291). Immunofluorescence labeling demonstrated a profound reduction in the apical expression of the Cl-/HCO3- exchanger pendrin in cortical collecting duct cells and western and northern blots indicated diminished plasma membrane abundance and mRNA expression of pendrin in CF kidneys. Conclusions: We propose that patients with cystic fibrosis are prone to the development of metabolic alkalosis secondary to the inactivation of the bicarbonate secreting transporter pendrin, specifically during volume depletion, which is a common occurrence in CF patients.

scholarly journals P81 Pseudo-bartter syndrome as initial presentation of cystic fibrosis in a 4-month old infant

2019 ◽  
Author(s):  
Elena Georgieva ◽  
Nadja Rimpova ◽  
Mihail Zeljaskov ◽  
Mariana Ardalieva ◽  
Daniel Iliev
Keyword(s):  
Cystic Fibrosis ◽  
Bartter Syndrome ◽  
Initial Presentation

Clinical presentation of metabolic alkalosis in an adult patient with cystic fibrosis

Respirology ◽  
2005 ◽  
Vol 10 (2) ◽  
pp. 254-256 ◽  
Author(s):  
Lisel J. SWEETSER ◽  
James A. DOUGLAS ◽  
Renata L. RIHA ◽  
Scott C. BELL
Keyword(s):  
Cystic Fibrosis ◽  
Adult Patient ◽  
Metabolic Alkalosis ◽  
Clinical Presentation

scholarly journals Atypical presentation of cystic fibrosis: Obese adolescent with hypertension and pseudo-Bartter’s syndrome

2012 ◽  
Vol 69 (4) ◽  
pp. 367-369 ◽  
Author(s):  
Aleksandar Sovtic ◽  
Predrag Minic ◽  
Radovan Bogdanovic ◽  
Natasa Stajic ◽  
Milan Rodic ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Metabolic Alkalosis ◽  
Caloric Intake ◽  
Chloride Concentration ◽  
Plasma Renin ◽  
Holter Monitoring ◽  
Atypical Presentation ◽  
Bartter’S Syndrome ◽  
Bartter's Syndrome ◽  
Obese Adolescent

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.

scholarly journals “Summer hypokalemia” as an initial presentation of cystic fibrosis in a morbidly obese African American adult: case report

2020 ◽  
Vol 21 (1) ◽  
Author(s):  
Yangming Cao ◽  
Rachel Donaldson ◽  
David Lee
Keyword(s):  
Cystic Fibrosis ◽  
African American ◽  
Metabolic Alkalosis ◽  
Potassium Level ◽  
Delayed Diagnosis ◽  
Sweat Test ◽  
Morbidly Obese ◽  
Special Diet ◽  
African American Adult ◽  
American Adult

Abstract Background Most patients with cystic fibrosis (CF) present with respiratory or digestive symptoms. About 3% of patients have electrolyte disturbances at the time of diagnosis, but most of the described cases presenting with this manifestation have been in children. Only 3 adult patients are identified in the literature who first presented with hypokalemia. We describe a morbidly obese African American adult who presented with severe hypokalemia and metabolic alkalosis, which eventually led to the diagnosis of CF after multiple hospitalizations over 4 consecutive summers. Besides being the first African American adult with this presentation, he had the highest BMI, lowest serum potassium, highest pH, and highest bicarbonate level. Case presentation In the summer of 2015, a 26 year-old African American man presented to the hospital for generalized weakness. His BMI was 54 kg/M2, and he had been on a special diet for a few months with a weight loss of 50 pounds. He sweated profusely while working as a chef. Laboratory tests showed severe hypokalemia and metabolic alkalosis. Further work-up pointed toward extrarenal losses of potassium. He was treated with intravenous normal saline and potassium chloride. After discharge, his potassium level remained normal through the winter while the potassium was tapered off. However, over the following three summers, he repeatedly presented to hospitals for the same problems. Cystic fibrosis was suspected and confirmed by an abnormal pilocarpine sweat test. Gene test revealed two mutations of cystic fibrosis transmembrane conductance regulator (CFTR). Thereafter, his potassium level remained normal with potassium replacement during summertime. Unexpectedly, however, his BMI rose to 83 kg/M2 after he stopped the special diet for weight reduction. The reason for the delayed diagnosis is discussed. Conclusion We present an exceedingly rare case of CF in a morbidly obese African American adult male whose only manifestation of CF was hypokalemia and metabolic alkalosis. Clinicians should keep an open mind to the diagnosis of CF in ethnically diverse populations, even if it seems unlikely at first glance. For “summer hypokalemia”, consider cystic fibrosis.

scholarly journals Cystic fibrosis presenting with hypokalemia and metabolic alkalosis in a previously healthy adolescent.

1997 ◽  
Vol 8 (2) ◽  
pp. 352-355
Author(s):  
C M Bates ◽  
M Baum ◽  
R Quigley
Keyword(s):  
Cystic Fibrosis ◽  
Metabolic Alkalosis ◽  
Extracellular Fluid ◽  
Multiple Organ ◽  
Healthy Adolescent ◽  
Volume Contraction ◽  
Warm Weather ◽  
Organ Systems ◽  
Cystic Fibrosis Transmembrane ◽  
Sweat Sodium

Cystic fibrosis (CF) is an exocrine disease affecting multiple organ systems. Patients with CF usually present with respiratory or gastrointestinal abnormalities. This study presents a case of a previously healthy 17-yr-old man who was diagnosed with CF after presenting with metabolic alkalosis and hypokalemia. The defect associated with CF is in the cystic fibrosis transmembrane regulator (CFTR), which acts primarily as a chloride channel. Partially functional CFTR may be associated with less severe pulmonary and gastrointestinal manifestations, as in the case presented. Dysfunctional CFTR in the sweat ducts of CF patients are responsible for excessive chloride and sodium losses, especially in warm weather. Hypokalemia seen with heat stress is secondary to sweat as well as renal potassium wasting. Metabolic alkalosis is maintained by the excessive sweat sodium chloride losses which leads to extracellular fluid (ECF) volume contraction and chloride depletion. Generation of alkalosis may be related to dysfunctional CFTR in the kidney, but is most likely secondary to hypokalemia with ECF volume contraction. Finally, one must consider CF when confronted with hypokalemia and alkalosis in a previously healthy patient.

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