Two Cases of Pseudo-Bartter Syndrome in Childhood: When to Suspect a Rare Onset Pattern of Cystic Fibrosis

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Gianluca Vergine

DOI: 10.69097/41-03-2024-05

Gianluca Vergine1, Giulia Fressola2, Maura Ambroni3, Monica Gessaroli4, Barbara Bigucci1, Martina Mazzocco1, Maria Luisa Conte1

1 UOC Pediatria, Ospedale Infermi, Rimini, ASL Romagna
2 Scuola di Specializzazione in Pediatria, Università degli Studi di Ferrara
3 Centro Regionale Fibrosi Cistica, Ospedale Bufalini, Cesena, ASL Romagna
4 Scuola di Specializzazione in Pediatria, Università degli Studi di Bologna

Corresponding author:
Gianluca Vergine
UOC Pediatria, Ospedale Infermi di Rimini
Via Luigi Settembrini 2
47900 Rimini, Italia
Tel/Fax: 0541/705034
E-mail: gianluca.vergine@auslromagna.it

 

Abstract

Cystic fibrosis is a multisystem disease with extremely variable onset, symptoms and course. One of the onset modality but also a complication of the disease is the pseudo-Bartter syndrome, characterized by hyponatremia, hypochloremic dehydration and metabolic alkalosis in absence of any renal disease. This syndrome occurs more frequently in the first year of life and has a peak in the summer.

In this article, we describe two cases of cystic fibrosis associated with pseudo-Bartter syndrome in childhood. Excluding every possible cause of metabolic alkalosis associated with hyponatremia was crucial for our diagnostic pathway, and the experience gained with the first case helped a lot with the second one.

Keywords: cystic fibrosis, pseudo-Bartter syndrome, metabolic alkalosis, hyponatremia, pediatrics

Sorry, this entry is only available in Italian.

Introduzione

La fibrosi cistica (FC) è una malattia genetica a trasmissione autosomica recessiva, caratterizzata dalla mutazione del gene che codifica per una proteina (CFTR: cystic fibrosis transmemebrane regulator) coinvolta nel trasporto transmembrana del cloro. Il gene responsabile si trova a livello del braccio lungo del cromosoma 7. Il CFTR è espresso sulle cellule epiteliali delle vie aeree, del tratto digerente, del pancreas, delle vie biliari, nelle ghiandole sudoripare e nell’apparato genitourinario. Le conseguenze del malfunzionamento sono l’incapacità di eliminare secrezioni mucose per lo scarso contenuto di acqua, un elevato contenuto di sali nel sudore e nelle altre secrezioni sierose e infezioni respiratorie croniche. La mutazione più comune del gene è una delezione che determina l’assenza di fenilalanina nella posizione 508 (ΔF508), tuttavia sono state descritte più di 2.000 mutazioni e le conseguenze molecolari di tali mutazioni possono essere raggruppate in 7 classi sulla base del tipo di alterazione (sintesi, maturazione, trasporto, funzionalità) [1]. 

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Use of CFTR Modulators for Cystic Fibrosis in a Patient with Liver Transplant and ESRD on Hemodialysis

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Lilio Hu

Lilio Hu1,2, Paolo Ferdinando Bruno3, Sara Signorotti3, Marco Ruggeri3, Veronica Sgarlato3, Fulvia Zanchelli3, Lucia Neri3, Antonio Giudicissi3, Giovanni Mosconi3

1 UO Nefrologia, Dialisi e Trapianto – IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italia
2 Dipartimento di Scienze Mediche e Chirurgiche (DIMEC), Alma Mater Studiorum - Università di Bologna, Bologna, Italia
3 UO Nefrologia e Dialisi – Ospedale “M. Bufalini”, Cesena, Italia

Corresponding author:
Lilio Hu
UO Nefrologia, Dialisi e Trapianto – IRCCS Policlinico di Sant’Orsola, Università di Bologna Alma Mater Studiorum, Bologna, Italia
Via Massarenti 9
40138 Bologna, Italia
E-mail: lilio.hu2@unibo.it

 

Abstract

Cystic fibrosis is an autosomal recessive disorder caused by mutations of the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most recent therapeutic approach to cystic fibrosis aims to correct structural and functional abnormalities of CFTR protein.
CFTR modulators including ivacaftor-tezacaftor-elexacaftor are used in patients with F508del mutation, with clinical improvement. To date, there are no experiences of CFTR modulator therapy in cystic fibrosis patients with organ transplantation and severe renal impairment.
We report the case of a patient diagnosed with cystic fibrosis with F508del mutation, who underwent liver transplantation at the age of 19 and started hemodialysis at the age of 24 due to end-stage renal disease secondary to membranous glomerulonephritis. She was treated with Kaftrio (ivacaftor-tezacaftor-elexacaftor) with clinical benefits on appetite, improvement of body mass index, and reduction of pulmonary exacerbations. A reduction of dosage to 75% of the standard dose was required due to alterations of the liver function.
Conclusions. Use of CFTR modulators in patient with cystic fibrosis, liver transplant and end-stage renal disease could be considered safe but a clinical and laboratoristic monitoring of hepatic function is needed.

Keywords: CFTR modulators, cystic fibrosis, ESRD, liver transplant

Introduction

Cystic fibrosis (CF) is an inherited disease caused by mutations of the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR) protein, expressed on the epithelial cells of many organs, including respiratory tract, pancreas, liver, intestine, reproductive tract.

The main clinical manifestations include chronic productive cough, difficulty in breathing, intolerance to exercise, pancreatic insufficiency, intestinal malabsorption, meconium ileus at birth.

The main burden to quality of life and the major cause of mortality in CF is progressive lung disease secondary to chronic airway obstruction that predisposes to recurrent pulmonary infection.

Classical treatment of CF is focused on the consequences of CFTR dysfunction and it includes respiratory physiotherapy, muco-active agents, aggressive antibiotic therapy, pancreatic enzyme replacement, high-calorie and high-fat diet.

The newest therapy approach to CF aims to correct structural and functional abnormalities of CFTR protein using CFTR modulators.

To date, there is no experience of CFTR modulators use in patients with end-stage renal disease (ESRD) and in patients undergone organ transplantation. 

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