Cystic Fibrosis in two Ghanaian Children

Author:

Owusu Sandra Kwarteng1,Obeng-Koranteng Gabrielle2,Odai Sandra Laryea2,Kilba Marie Charlyne Fatima3,Abbeyquaye Parbie2,Onwona-Agyeman Kwabena3,Asamoah-Okyere Sheila2,Oduah-Odoom Prince Matthew2,Adjetey Naomi Dianna1,Bonsu Kevin2,Lawerteh Stella Elikplim2,Afidemenyo Selorm2,Zampoli Marco4

Affiliation:

1. Department of Paediatrics, Komfo Anokye Teaching Hospital, Kumasi, Ghana

2. Department of Paediatrics, Millitary Hospital, Accra, Ghana

3. Department of Paediatrics, Greater Accra Regional Hospital, Accra, Ghana,

4. Department of Paediatrics, Division of Paediatric Pulmonology, Red Cross War Memorial Children’s Hospital, University of Cape Town, Rondebosch, Cape Town, South Africa,

Abstract

Cystic fibrosis (CF) is a severe life-limiting genetic disorder resulting from mutations in the cystic fibrosis transmembrane regulator gene and is reported to be more prevalent among Caucasians than people of African descent. The past three decades have seen a gradual increase in the reporting of CF in non-European populations with CF in all regions including Africa. We report on the first two known Ghanaian children diagnosed with CF presenting early in infancy. The first patient presented with severe acute malnutrition and persistent diarrhea resulting from severe exocrine pancreatic insufficiency. In the second patient, there were recurrent wheeze and recurrent pneumonia, severe dehydration with metabolic alkalosis. Diagnosis of CF in Ghana is challenging due to the absence of diagnostic tools such as sweat testing equipment. In the first patient, sweat testing and genetic testing were done in South Africa. In the second patient, sweat testing was not done but diagnosis was confirmed by genetic testing. Both patients presented with classical CF symptoms including Pseudomonas aeruginosa airway infection before age 6 months. Both children are currently alive and healthy on appropriate treatment. These case reports highlight the growing evidence of CF occurring in people of African descent and the diagnostic challenges faced in Africa.

Publisher

Scientific Scholar

Reference13 articles.

Cited by 2 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献

1. A comprehensive review of cystic fibrosis in Africa and Asia;Saudi Journal of Biological Sciences;2023-07

2. An enduring commitment to respiratory research;Journal of the Pan African Thoracic Society;2021-10-01

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