Pseudo‐Bartter’s syndrome revealing cystic fibrosis in an infant caused by 3849 + 1G&gt;A and 4382delA compound heterozygosity

El-Rifai, Nahida; Mohammed, Hourani; Lochard, Guy

doi:10.1111/j.1651-2227.2011.02294.x

Cited by 7 publications

(6 citation statements)

References 10 publications

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“…We report here for the first time in the literature this mutation in a case of PBS. Another previously reported mutation in one patient with CF and presenting with PBS, severe dehydration and hypochloremic metabolic acidosis in 2011 were ( 3849 + 1G > A and 4382delA compound heterozygosity ) (Nahida et al 2011 ), this was in addition to M2789 + 5G and F508del described in 2013 in Jordan (Dahabreh and Najada 2013 ) and D575G mutation in southern Italy (Salvatore et al 2004 ).…”

Section: Discussionmentioning

confidence: 84%

Mutation spectrum of Egyptian children with cystic fibrosis

2016

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ObjectiveTo know the common CFTR mutations in the Egyptian patients with cystic fibrosis as it was previously thought to be uncommon disease in Egypt.MethodsThis is a cross sectional study of 60 patients diagnosed as cystic fibrosis by sweat chloride testing. They were enrolled from the Allergy and Pulmonology Unit Children’s Hospital Cairo University. They were screened for the presence of the frequent 36 mutations in Caucasians by reverse hybridization line probe technique, using INNO-LiPACFTR19 and CFTR17 + Tn kits.ResultsMost of patients presented with classic manifestations of CF such as variable pulmonary disease and pancreatic insufficiency, and hepatomegaly with or without ascites. The mutations detected were F508 del (58 %), 2183AA/G (10 %), N1303K (6 %), I148T (4 %), W1282X (4 %), G155D (2 %), CFTRdel2-3 (21 KB) (2 %), 3199del6 (2 %), R347P (2 %). Unique to the Egyptian population are these mutations R1162X and A544E (6, 4 %) respectively they were found in our cohort study and were not reported elsewhere in the Arab population till now. There was no association between the initial clinical presentation of CF and the genotypes detected.ConclusionThe F508 del is still the most commonly encountered mutation (58 %), however other rare mutations were identified where each ranged from (2 to 10 %).

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Section: Discussionmentioning

confidence: 84%

Mutation spectrum of Egyptian children with cystic fibrosis

2016

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“…PBS is characterized by hyponatremic, hypochloremic metabolic alkalosis that mimics Bartter syndrome but with no pathology in the renal tubules [5]. Sometimes PBS may be the first manifestation of CF [6,7,8].…”

Section: Introductionmentioning

confidence: 99%

Pseudo-Bartter’s syndrome in patients with cystic fibrosis: A case series and review of the literature

Vilotijevic-Dautovic

Stojanović

2015

Srp Arh Celok Lek

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“…This ROMK-CFTR interaction is in turn required for the native ATP and glybenclamide sensitivity of apical K 1 channels in the TAL (33). Impaired CFTR-dependent regulation of ROMK in the TAL may potentially explain the propensity for hypochloremic alkalosis and "pseudo-Bartter's syndrome" in patients with cystic fibrosis (33,34).…”

Section: Anatomy and Morphologymentioning

confidence: 99%

Thick Ascending Limb of the Loop of Henle

Mount

2014

Clinical Journal of the American Society of Nephrology

143

106

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The thick ascending limb occupies a central anatomic and functional position in human renal physiology, with critical roles in the defense of the extracellular fluid volume, the urinary concentrating mechanism, calcium and magnesium homeostasis, bicarbonate and ammonium homeostasis, and urinary protein composition. The last decade has witnessed tremendous progress in the understanding of the molecular physiology and pathophysiology of this nephron segment. These advances are the subject of this review, with emphasis on particularly recent developments.

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Pseudo‐Bartter’s syndrome revealing cystic fibrosis in an infant caused by 3849 + 1G>A and 4382delA compound heterozygosity

Abstract: The genotype 3849 + 1G>A/4382delA found in our patient is described for the first time in the literature. It explains the lung involvement with the dehydration and electrolyte disturbances. The role of the mutation in exon 24 in cases of CF with PB syndrome remains to be determined.

Cited by 7 publications

References 10 publications

Mutation spectrum of Egyptian children with cystic fibrosis

Mutation spectrum of Egyptian children with cystic fibrosis

Pseudo-Bartter’s syndrome in patients with cystic fibrosis: A case series and review of the literature

Thick Ascending Limb of the Loop of Henle

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