PMC317302_01
Family tree and clinical parameters of the family with SPINK1 (N34S) and CASR (518T>C) gene mutations Two family members were diagnosed with chronic pancreatitis and FHH (II:2 and II:4). Mutational analysis of the index patient (36 years) and three other individuals, respectively, mother (62), unaffected brother (43) and daughter (8) (I:2, II:3, II:4 and III:1) showed a heterozygous SPINK1 mutation (N34S). In addition, the index patient and his daughter (II:4, III:1) had a point mutation in exon 4 at position 518 (518T>C) of the CASR gene. As for the individual II:3 in generation I no family member complained about abdominal pain (I:1 deceased in 1971). DNA from the symptomatic brother (39 years) was unavailable for genetic testing, but CP and FHH was diagnosed clinically.
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F3
We report on a 35-year-old caucasian male (II:4, Fig. 3) who was admitted to the hospital with an acute exacerbation of chronic pancreatitis in 2002. The fact that his older brother (II:2, Fig. 3) had the same complex of symptoms (recurrent pancreatitis, elevated serum calcium level and low urinary calcium excretion) supported the hypothesis of a genetic cause and the diagnosis of FHH.