This disorder is a constellation of symptoms, including cystic fibrosis-like disorder, Helicobacter pylori gastritis, megaloblastic anemia, subnormal mentality, and some other minor anomalies. To date, it has been described in only two Kuwaiti siblings [Please see: Epidemiology section for further details].
An autosomal recessive mode of inheritance has been postulated for this disorder.
Lubani et al. (1991) described two Kuwaiti siblings of either sex, born to consanguineous parents, who presented with features of cystic fibrosis (CF), folate deficiency, megaloblastic anemia, subnormal mentality, minor facial anomalies, and Helicobacter pylori gastritis. The mother was phenotypically normal, while the father had died. Unusual facial features included frontal bossing, small deep-set eyes, telecanthus, elongated face, and prominent ear lobules. The male patient showed glandular hypospadias and shawl scrotum. Both patients had antral gastritis, low total serum protein and albumin, and clinical edema. Serum folate was initially too low to be detected, but increased after treatment with folic acid. Treatment included courses of antibiotics, metronidazole, physiotherapy, pancreatic enzyme extracts, and nutritional supplements. Chest infections and diarrhea were less frequent following treatment, and both patients were thriving well at the time of reporting. The occurrence of H. pylori gastritis along with CF could be considered coincidental. The same could also be said for the co-occurrence of CF and megaloblastic anemia. However, the occurrence of the characteristic facies and minor anomalies prompted Lubani and colleagues (1991) to postulate that this could be a novel autosomal recessive disorder resembling CF and causing folate deficiency through an enzyme defect.