Cystic Fibrosis Presenting as Pseudo-Bartter Syndrome: An Important Diagnosis that is Missed!

Mantoo, Mohsin Raj; Kabra, Madhulika; Kabra, S. K.

doi:10.1007/s12098-020-03342-8

Cited by 21 publications

(17 citation statements)

References 33 publications

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“…In infancy, children with CF mainly present with repeated respiratory tract infections, fatty diarrhea, and growth retardation, and 12%–18.8% of them present with low potassium, low sodium, low chlorine, and metabolic alkalosis as the initial or main manifestations, but without renal tubulopathy, which is known as PBS. The reason for PBS is that the sweat glands failed to effectively recover sodium and chloride ions due to the mutation of CFTR gene, and the body lost a large amount of water and electrolyte with sweat, thus activating the renin-angiotensin-aldosterone system and increasing the discharge of potassium ions, resulting in hypokalemia [ 15 ]. In addition, bicarbonate is accumulated in the body by increased compensatory absorption of bicarbonate and decreased glomerular filtration rate, eventually leading to electrolyte disorders and alkalosis.…”

Section: Discussionmentioning

confidence: 99%

Analysis of Clinical Manifestations, Imaging Features, and Gene Mutation Characteristics of 6 Children with Cystic Fibrosis in China

Chu

Shuai

Huang

et al. 2021

Evidence-Based Complementary and Alternative Medicine

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Objective. To explore the clinical manifestations, imaging features, and gene mutation characteristics of 6 children with cystic fibrosis (CF) so as to improve the understanding and diagnosis awareness of CF in children and reduce the missed diagnosis and misdiagnosis. Methods. The clinical manifestations, imaging, and gene mutation data of six children with CF were collected and retrospectively analyzed. Results. Among the 6 cases of CF, there were 4 males and 2 females. Among the 6 children with CF, 5 cases presented with recurrent respiratory tract infection. Etiology suggested 3 cases of Pseudomonas aeruginosa and 2 cases of Staphylococcus aureus. 3 cases had pancreatic exocrine dysfunction, manifested as diarrhea and aliphatic diarrhea, of which 1 case had high lipase in blood examination, and pancreatic ultrasound showed rough and enhanced pancreatic echo, considering pancreatic cystic fibrosis. 2 cases of CF combined with pseudo-Bartter syndrome (PBS); 1 case involved only the biliary tract and started with cholestasis without other systemic involvement. In 2 cases of sweat test, sweat chloride ions were all >60 mmol/L. 3 cases underwent fiberoptic bronchoscopy, and a large number of sticky secretions were visible under the bronchoscopy. CT of the chest revealed thickening of the bronchial wall (3 cases), bronchiectasis (1 case), atelectasis (1 case), and thin bronchial lumen (2 cases). 1 patient was found to have small airway lesions and mosaic perfusion during follow-up. All 6 children with CF underwent genetic testing. A total of 12 CF transmembrane conductance regulator (CFTR) gene mutations were found, of which 4 mutations were not reported in the literature. Conclusion. CF is a disease caused by CFTR mutation. The incidence of this disease in China is low, and the clinical manifestations have great differences. The main symptoms are respiratory symptoms. Some children have gastrointestinal symptoms and/or PBS, and some children only show a single systemic lesion.

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Section: Discussionmentioning

confidence: 99%

Analysis of Clinical Manifestations, Imaging Features, and Gene Mutation Characteristics of 6 Children with Cystic Fibrosis in China

Chu

Shuai

Huang

et al. 2021

Evidence-Based Complementary and Alternative Medicine

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“…Paracellular reabsorption of Ca and Mg is also impaired and causes hypocalcemia and hypomagnesemia. Prostaglandin E2 excess and severe potassium depletion may also impair the reabsorption of Na + -K + -2Cl- [5][6]. Our patient had low urinary potassium excretion, but urinary sodium and chlorine excretion was high.…”

Section: Discussionmentioning

confidence: 93%

A Case of Familial Mediterranean Fever Presenting with Pseudo-Bartter Syndrome

Hüzmelí¹,

Yurteri²,

Bardakçı³

2021

IJCEMR

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Bartter Syndrome is a disease (sporadic or familial) characterized by hypochloremia, hypokalemia, hyponatremia, metabolic alkalosis, hyperaldosteronism, hyperreninemia and normal blood pressure. Pseudo-Bartter syndrome is characterized by hypochloremia associated with metabolic alkalosis and hypokalemia without any pathology in the tubular transport mechanism. Bartter syndrome and pseudo bartter syndrome have similar biochemical profile. Pseudo-Bartter syndrome is different from Bartter syndrome as extrarenal electrolyte loss occurs. Pseudo-Bartter syndrome may develop as a result of cystic fibrosis, inappropriate diuretic use, chlorine-poor diet, bulimia, cyclic vomiting, and laxative abuse. In the treatment of pseudo-bartter syndrome, the treatment of the underlying disease and the provision of fluid and electrolyte balance. Familial Mediterranean fever is characterized by non-infectious recurrent episodes of fever and serositis and is an autosomal recessive genetic disease that can develop amyloidosis over time. In this paper, we made the diagnosis of Familial Mediterranean fever in an 18-year-old male patient who presented with pseudo-Bartter syndrome. The association of pseudo-Bartter syndrome and Familial Mediterranean fever has not been previously described in the literature.

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“…Supporting the involvement of CFTR in ADPKD cyst inflation, it was shown that fluid accumulation within cysts involves CFTR-like chloride currents [14] and it is slowed down either through inhibition or knockdown of CFTR [10][11][12][13][14]. Interestingly, besides the pseudo-Bartter syndrome, a transient hyponatremic, hypochloremic metabolic alkalosis observed in some cystic fibrosis infants, that has been mainly attributed to the excessive loss of NaCl in the sweat [16], no other functional/structural kidney phenotype has been reported in cystic fibrosis patients. And, in fact, a milder kidney phenotype was observed in patients affected by both ADPKD and cystic fibrosis [9].…”

Section: Introductionmentioning

confidence: 97%

Zebrafish Model as a Screen to Prevent Cyst Inflation in Autosomal Dominant Polycystic Kidney Disease

Oliveira

Jacinto

Pestana

et al. 2021

IJMS

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In autosomal dominant polycystic kidney disease (ADPKD), kidney cyst growth requires the recruitment of CFTR (cystic fibrosis transmembrane conductance regulator), the chloride channel that is defective in cystic fibrosis. We have been studying cyst inflation using the zebrafish Kupffer’s vesicle (KV) as model system because we previously demonstrated that knocking down polycystin 2 (PC2) induced a CFTR-mediated enlargement of the organ. We have now quantified the PC2 knockdown by showing that it causes a 73% reduction in the number of KV cilia expressing PC2. According to the literature, this is an essential event in kidney cystogenesis in ADPKD mice. Additionally, we demonstrated that the PC2 knockdown leads to a significant accumulation of CFTR-GFP at the apical region of the KV cells. Furthermore, we determined that KV enlargement is rescued by the injection of Xenopus pkd2 mRNA and by 100 µM tolvaptan treatment, the unique and approved pharmacologic approach for ADPKD management. We expected vasopressin V2 receptor antagonist to lower the cAMP levels of KV-lining cells and, thus, to inactivate CFTR. These findings further support the use of the KV as an in vivo model for screening compounds that may prevent cyst enlargement in this ciliopathy, through CFTR inhibition.

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Cystic Fibrosis Presenting as Pseudo-Bartter Syndrome: An Important Diagnosis that is Missed!

Cited by 21 publications

References 33 publications

Analysis of Clinical Manifestations, Imaging Features, and Gene Mutation Characteristics of 6 Children with Cystic Fibrosis in China

Analysis of Clinical Manifestations, Imaging Features, and Gene Mutation Characteristics of 6 Children with Cystic Fibrosis in China

A Case of Familial Mediterranean Fever Presenting with Pseudo-Bartter Syndrome

Zebrafish Model as a Screen to Prevent Cyst Inflation in Autosomal Dominant Polycystic Kidney Disease

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