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Petreska L, Koceva S, Plaseska D, Chernick M, Gordova‐Muratovska A, Fustic S, Nestorov R, Efremov GD. Molecular basis of cystic fibrosis in the Republic of Macedonia. Clin Genet 1998: 54: 203–209. 0 Munksgaard, 1998 Eighty‐three cystic fibrosis (CF) patients and their families, belonging to various ethnic groups living in the Republic of Macedonia were studied for molecular defects in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, and for the associated extragenic marker loci XV‐2c and KM 19. The DNA methodology used included characterization of CFTR mutations in 19 exons (and flanking sequences) of the gene and analysis of distribution of the XV‐2c/KM19 haplotypes among normal (N) and CF chromosomes by polymerase chain reaction (PCR) amplification followed by dot blot hybridization, restriction digestion, single‐strand conformational polymorphism, constant denaturing gel electrophoresis, denaturing gradient gel elec‐trophoresis, and sequencing. We identified 58.4% (97/166) of the CF chromosomes. Nine different CFTR gene mutations, including three novel ones. were found. Eight known and one new CFTR intragene polymorphisrns were also characterized. The haplotype analysis of the XV‐2c/TaqI and KM19/PstI polymorphic loci have shown that haplotype C is the most frequently found haplotype among the non‐AF508 CF chromosomes from Macedonia (36.5%). The results demonstrate the broad heterogeneity of CF origin in this part of the Balkan Peninsula.

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Benign transient hyperphosphatasemia (BTH) is a condition which occurs in children younger than five years, characterized by a complete absence of specific clinical and laboratory findings of bone or liver diseases and a five or even 20–70-fold increase in serum of alkaline phosphatase levels(ALP). The aim of this case report was to point out that elevated levels of ALP are not always related to serious bone and liver diseases. We described three healthy patients, which were referred to our out-patient clinic by their primary care physicians because of markedly elevated levels of ALP. The diagnosis of BTH was based on a thorough physical exam, a wide range of laboratory and imaging tests, which excluded liver or bone disease as a cause for elevated ALP. BTH is not very well-known and managed in daily clinical practice. Primary care physicians should consider this diagnosis in cases with elevated ALP in otherwise healthy infants and toddlers, refrain from unnecessary tests, prescribing higher doses of vitamin D3 or referral to tertiary level pediatric institutions.