Salt depletion syndrome as the initial presentation of cystic fibrosis in a toddler with the rare p.Ala309Gly (A309G) CFTR variant

2016 ◽  
Vol 90 (2) ◽  
pp. 186-187
Author(s):  
D. Salvatore ◽  
D. Dell'Edera ◽  
C. Colangelo ◽  
G. Smaldore
2019 ◽  
Vol 38 (2) ◽  
pp. 118-121
Author(s):  
Md Abu Bakkar Siddique ◽  
Kalimuddin Khan ◽  
Aparajita Bera ◽  
Sudipta Ghorai ◽  
Jasmine Mallik ◽  
...  

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.


1973 ◽  
Vol 82 (3) ◽  
pp. 535-536 ◽  
Author(s):  
S.N. Arvanitakis ◽  
C.C. Lobeck

Author(s):  
Elena Georgieva ◽  
Nadja Rimpova ◽  
Mihail Zeljaskov ◽  
Mariana Ardalieva ◽  
Daniel Iliev

2018 ◽  
Vol 4 (8) ◽  
Author(s):  
Upma Suneja ◽  
Akhila Mandadi ◽  
Lil Rodriguez ◽  
George Vermenton ◽  
Jayendra Sharma

2008 ◽  
Vol 58 (2) ◽  
pp. S1-S4 ◽  
Author(s):  
Audrey Lovett ◽  
Victor Kokta ◽  
Catherine Maari

1993 ◽  
Vol 32 (9) ◽  
pp. 548-551 ◽  
Author(s):  
Fenella Greig ◽  
Morris J. Schoeneman ◽  
Stephen R. Kandall ◽  
Richard J. Bonforte

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