During 1977, 5279 male and 4616 female visits (9895 in all) for acute abdominal conditions were made to the emergency room at the Department of Surgery in Malmö, Sweden. Twice as many patients were seen on Mondays and Tuesdays as on Saturdays. More than 50% of the visits were classified as non-specific abdominal pain or gastritis. The highest incidence of these two conditions was found in the 20-29-year age group and 2-3 times as many patients in this age group were seen on Mondays as on Saturdays and Sundays. It is concluded that studies on the age- and sex-specific incidence rates of different abdominal disorders should be of great value for proper planning of diagnostic and therapeutic resources and further of importance for the planning of the education and training of the general surgeon. Differences in the age- and sex-specific incidence rates as well as differences in the incidence rates from one time period to another illustrate the value of retrospective studies as a basis for future prospective studies regarding cause and potential for prevention of acute abdominal diseases.
Kidney stone disease is a complex disorder with a strong genetic component. We conducted a genome-wide association study of 28.3 million sequence variants detected through whole-genome sequencing of 2,636 Icelanders that were imputed into 5,419 kidney stone cases, including 2,172 cases with a history of recurrent kidney stones, and 279,870 controls. We identify sequence variants associating with kidney stones at ALPL (rs1256328[T], odds ratio (OR)=1.21, P=5.8 ? 10(-10)) and a suggestive association at CASR (rs7627468[A], OR=1.16, P=2.0 ? 10(-8)). Focusing our analysis on coding sequence variants in 63 genes with preferential kidney expression we identify two rare missense variants SLC34A1 p.Tyr489Cys (OR=2.38, P=2.8 ? 10(-5)) and TRPV5 p.Leu530Arg (OR=3.62, P=4.1 ? 10(-5)) associating with recurrent kidney stones. We also observe associations of the identified kidney stone variants with biochemical traits in a large population set, indicating potential biological mechanism.
Cites: Nat Protoc. 2009;4(7):1073-8119561590
Cites: Nat Genet. 2009 Aug;41(8):926-3019561606
Cites: Am J Physiol Renal Physiol. 2009 Sep;297(3):F671-819570882
The paper presents the results of clinical and laboratory examination made in 3 groups of children: populational, hospital and control (a total of 176 patients). The children were diagnosed to have variants of dysmetabolic nephropathy (DN) which had become a problem not only for urolithiasis-endemic regions, but also for the Middle Russia. The study involving characterization of cytomembranes, renal tissue biopsy allowed conclusion on nonspecific DN symptoms. Obligatory symptoms were those of OCC, microhematuria and/or mild proteinuria, changes in cytomembranes, weak tubular function, tubulo-interstitial changes. DN genesis is thought multifactorial, involving genetic predisposition, biochemical defects, ecological hazards.
OBJECTIVE: The prevalence of kidney stones varies greatly between ethnic groups and geographic locations, ranging from 8% to 19% in males and from 3% to 5% in females in Western countries. The aim of this study was to examine the epidemiology of kidney stones in Iceland. MATERIAL AND METHODS: Data were derived from the Reykjavik Study, a population-based cohort study carried out between 1967 and 1991. All subjects answered a thorough questionnaire concerning their medical history at each visit. The lifetime prevalence of kidney stones was calculated based on the answer to the question "Have you ever been diagnosed with a kidney stone?" at each person's first visit. Incidence was calculated based on answers from subjects who had made two or more visits. Prevalence and incidence were age-standardized to the truncated world population. Family history of kidney stones was also evaluated. RESULTS: A total of 9039 men aged 33-80 years and 9619 women aged 33-81 years participated. Of these, 423 males and 307 females had a history of kidney stones (p=0.001). Prevalence increased significantly with age for both genders. Men aged 30-34 years had a prevalence of 2.9%, compared to 8.8% for those aged 65-69 years, whereas corresponding values for women were 2.5% and 5.0%. The age-standardized prevalence for the 30-79 years age group was 4.3% for men and 3.0% for women. No significant increase in prevalence was observed over time. The incidence was 562 per 100 000 per year among men and increased significantly with age. The incidence among women was 197 per 100 000 per year and did not differ between age groups. A family history of nephrolithiasis was present in 25% of subjects with a history of kidney stones, and in 4% of those without. CONCLUSIONS: The incidence and prevalence of kidney stones in Icelandic women are similar to those that have been reported in other Western countries. The prevalence among men is lower that in neighboring countries but the incidence is similar. A strong family history of kidney stones suggests a genetic predisposition.
The natural history of upper urinary tract stones has been studied retrospectively in 49-50 year-old men in an urban population. The prevalence of stones in 2322 men was found to be 13.7%, with the highest incidence of onset of the disease during fifth decade. Recurrences had occurred in 42% of all cases, the frequency increasing with observation time. On some occasion 23% of the patients had been admitted to hospital and 12.3% had been operated on, 94.5% of all stones passed spontaneously. A family history of kidney stones was significantly more common in stone patients than in healthy controls, and patients with a family history of stones were more prone to early and repeated recurrences. It is suggested that the raised incidence of stone disease in some families may be attributed to environmental rather than genetic factors. This could be of importance for prophylaxis. Analysis of hospital admission rates supported previous findings of a steady rise in stone incidence. The advantages of population studies for comparative analyses are pointed out.
The aetiology of kidney stones is multifactorial, with environmental and genetic factors contributing to the pathogenesis. The aim of this study was to assess the role of genetic factors in kidney stone disease by examining the heritability of the trait in Icelandic patients.
Medical records at all major hospitals and imaging centres in Iceland were searched for diagnostic codes indicative of kidney stones, yielding a cohort of 5954 incident patients with kidney stone disease. The list of patients was cross-matched with a genealogy database that covers the entire Icelandic nation. The risk ratio (RR) and kinship coefficient (KC) were calculated to determine the risk of kidney stones in relatives of stone formers and the relatedness among kidney stone patients.
The risk of kidney stones among family members of stone formers was significantly higher than in the general population. In 2959 patients with radiopaque stones, the RR ranged from 2.25 (p
To assess detailed familial risks for medically diagnosed urolithiasis (UL, urinary tract stone disease) based on nationwide hospital and population records.
Subjects were identified from the Swedish Multigeneration Register in which there were 211 718 patients with UL. Standardised incidence ratios (SIRs) were calculated by comparison to individuals without a family history of UL.
The highest familial SIRs were invariably found for the same (concordant) type of UL: 2.18 for kidney, 2.20 for ureter, and 1.93 for bladder. SIRs increased from 1.84, when one parent was affected, to 3.54 when both parents were affected, which was a multiplicative interaction. The SIR was 1.79 when one sibling was affected but it increased to 24.91 when two siblings were affected. Such excessive risks (5.2% of familial cases) are probably explained by high-penetrant genes. A low SIR of 1.29 between spouses suggested a minor contribution by shared environmental factors on the familial risk.
The results point to underlying genetic causes for the observed familial clustering and establish the genetic landscape of UL. Family histories should be taken in UL diagnostics and prevention could follow guidelines recommended for recurrent UL.
Increased urinary calcium excretion commonly is found in patients with hypertension and kidney stone disease (KSD). This study investigated the aggregation of hypertension and KSD in families of patients with KSD and hypercalciuria and explored whether obesity, excessive weight gain, and diabetes, commonly related conditions, also aggregate in these families. Consecutive patients with KSD, aged 18 to 50 yr, were recruited from a population-based Kidney Stone Center, and a 24-h urine sample was collected. The first-degree relatives of eligible patients (n = 333) and their spouse were interviewed by telephone to collect demographic and health information. Familial aggregation was assessed using generalized estimating equations. Multivariate-adjusted odds ratios (OR) revealed significant associations between hypercalciuria in patients and hypertension (OR 2.9; 95% confidence interval 1.4 to 6.2) and KSD (OR 1.9; 95% confidence interval 1.03 to 3.5) in first-degree relatives, specifically in siblings. No significant associations were found in parents or spouses or in patients with hyperuricosuria. Similarly, no aggregation with other conditions was observed. In an independent study of siblings of hypercalciuric patients with KSD, the adjusted mean fasting urinary calcium/creatinine ratio was significantly higher in the hypertensive siblings compared with normotensive siblings (0.60 +/- 0.32 versus 0.46 +/- 0.28 mmol/mmol; P