Cystic Fibrosis with Severe Anaemia and Hypoproteinaemia

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.

[1]  M. Stern,et al.  Nutrition in patients with cystic fibrosis: a European Consensus. , 2002, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.

[2]  C. Castellani,et al.  The cystic fibrosis transmembrane regulator gene and male infertility , 2000, Journal of endocrinological investigation.

[3]  A. Metspalu,et al.  Distribution of CFTR gene mutations in cystic fibrosis patients from Estonia , 2000, Journal of medical genetics.

[4]  G. Cutting,et al.  The diagnosis of cystic fibrosis: a consensus statement. Cystic Fibrosis Foundation Consensus Panel. , 1998, The Journal of pediatrics.

[5]  I. Swann,et al.  Anaemia, vitamin E deficiency and failure to thrive in an infant. , 1998, Clinical and laboratory haematology.

[6]  G. Mastella,et al.  Deficiency of vitamins E and A in cystic fibrosis is independent of pancreatic function and current enzyme and vitamin supplementation , 1996, European Journal of Pediatrics.

[7]  M. V. van’t Hof,et al.  Impaired resistance to oxidation of low density lipoprotein in cystic fibrosis: improvement during vitamin E supplementation. , 1995, Free radical biology & medicine.

[8]  X. Estivill,et al.  Cystic fibrosis in a low-incidence population: two major mutations in Finland , 1994, Human Genetics.

[9]  P. Farrell,et al.  Nutritional status of infants with cystic fibrosis associated with early diagnosis and intervention. , 1991, The American journal of clinical nutrition.

[10]  F. Accurso,et al.  Fat-soluble-vitamin status during the first year of life in infants with cystic fibrosis identified by screening of newborns. , 1989, The American journal of clinical nutrition.

[11]  H. Skopnik,et al.  Manifestation einer Kuhmilchproteinintoleranz bei Mukoviszidose mit der Symptomtrias - Hypoproteinämie, Ödeme und Anämie , 1987 .

[12]  F. Accurso,et al.  Persistent Morbidity and Mortality of Protein Calorie Malnutrition in Young Infants with CF , 1986, Journal of pediatric gastroenterology and nutrition.

[13]  P. A. Lee,et al.  Hypoproteinemia and anemia in infants with cystic fibrosis. A presenting symptom complex often misdiagnosed. , 1974, JAMA.

[14]  R. Schwartz,et al.  Albumin metabolism in cystic fibrosis. , 1969, Pediatrics.

[15]  L. Barness,et al.  HYPOPROTEINEMIA AND EDEMA IN INFANTS WITH CYSTIC FIBROSIS OF THE PANCREAS. , 1964, The Journal of pediatrics.

[16]  L. Tsui,et al.  Spectrum of mutations in the CFTR gene of patients with classical and atypical forms of cystic fibrosis from southwestern Sweden: identification of 12 novel mutations. , 2001, Genetic testing.

[17]  X. Estivill,et al.  Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations , 1997 .

[18]  O. Nielsen,et al.  The incidence of anemia, hypoproteinemia, and edema in infants as presenting symptoms of cystic fibrosis: a retrospective survey of the frequency of this symptom complex in 130 patients with cystic fibrosis. , 1982, Journal of pediatric gastroenterology and nutrition.

[19]  H. Bass,et al.  Cystic fibrosis presenting with anemia and hypoproteinemia in identical twins. , 1977, Pediatrics.

[20]  H. Shwachman,et al.  Anemia associated with protein deficiency. A study of 2 cases with cystic fibrosis. , 1961, The Journal of pediatrics.