ESSIC uses the name bladder pain syndrome (BPS) instead of interstitial cystitis (IC) and/or painful bladder syndrome (PBS): click here for more details.
EEC syndrome, Arg227Gln TP63 mutation and micturition difficulties: Is there a genotype-phenotype correlation? Maclean K, Holme SA, Gilmour E, et al. Am J Med Genet A 2007 Apr 12; [Epub ahead of print] • case report on two unrelated families with EEC syndrome (ectrodactyly, ectodermal dysplasia, cleft lip/palate), each with an Arg227Gln TP63 gene mutation
• features common to both families were an ectodermal dysplasia principally affecting tooth, breast and nipple development, dacryostenosis and severe micturition difficulties; additional findings included post-axial digital hypoplasia, cleft uvula, anal stenosis, hypoplasia of the perineal body and biopsy-proven interstitial cystitis
• unlike previous reports, the urinary symptoms were refractory to treatment with oral Fibrase and persisted into adulthood
• of the 6 cases/families now reported with EEC syndrome and Arg227Gln TP63 mutation, 4 have manifested this distinct urological abnormality, indicative of a genotype-phenotype correlation
Efficacy of tricyclic antidepressant is associated with beta2-adrenoceptor genotype in patients with interstitial cystitis. Nishijima S, Sugaya K, Yamada T, et al. Biomed Res 2006;27:163-7 • the efficay of imipramine was studied in 55 IC patients and 113 controls in relation to the polymorphism of the beta2-adrenoreceptor (ADRB2)
• the results suggest that the Arg16Gly polymorphism of ADRB2 is related to down-regulation of ADRB2 expression in the detrusor muscle and that the response of IC to tricyclic antidepressant therapy depends on the Arg16Gly polymorphism.
Prevalence of interstitial cystitis in first-degree relatives of patients with interstitial cystitis. Warren JW, Jackson TL, Langenberg P, et al. Urology 2004;63:17-21 • adult female first-degree relatives of patients with IC may have a prevalence of IC 17 times that found in the general population; this, together with previously reported evidence showing a greater concordance of IC among monozygotic than dizygotic twins, suggests, but does not prove, a genetic susceptibility to IC
A case of familial clustering of interstitial cystitis and chronic pelvic pain syndrome. Dimitrakov JD. Urology 2001;58:281 • a case of familial clustering of interstitial cystitis (IC) and chronic pelvic pain syndrome (CPPS) is reported
• the proband was a 28-year-old woman with IC; IC was also diagnosed in the patient's mother and in two of her brothers, previously considered to have CPPS (category IIIB CPPS). A third brother was asymptomatic
