-associated autosomal dominant tubulointerstitial kidney disease: prevalence in kidney failure of undetermined aetiology and clinical insights from Danish families.

Background: Frameshift variants in the variable number tandem repeat region of () cause autosomal dominant tubulointerstitial kidney disease (ADTKD-) but are challenging to detect. We investigated the prevalence in patients with kidney failure of undetermined aetiology and compared Danish families with ADTKD-.

Methods: We recruited patients with suspected kidney failure of undetermined aetiology at ≤50 years and excluded those with a clear-cut clinical or histopathological kidney diagnoses or established genetic kidney diseases identified thorough medical record review.

Reclassification of Two MLH1 Variants of Uncertain Significance Utilizing Clinical and Functional Data.

Background: Pathogenic variants in the mismatch repair genes are associated with an elevated lifetime risk of colorectal cancer (CRC). We previously identified two variants of uncertain significance (VUS) in the MLH1 gene, c.696_698del, p.

The role of genomic disorders in chronic kidney failure of undetermined aetiology ≤50 years.

Background: Genomic disorders caused by copy number variations (CNVs) are prevalent in patients with kidney disease; however, their contribution to chronic kidney failure (KF) of undetermined aetiology (uKF) is unclear. We screened patients with uKF aged 50 years or younger to establish the prevalence of causative CNVs.

Methods: We enrolled patients with an onset of KF ≤50 years from suspected undetermined aetiology for initial review of medical records to exclude patients with clear-cut clinical or histopathological kidney diagnoses or patients with already established genetic kidney diseases.

Somatosensory and trophic findings in the referred pain area in patients with kidney stone disease.

Background and purpose Visceral and somatic afferents activate the same neuronal structures in the central nervous system. Assessing somatosensory function and trophic changes in the referred pain area may therefore indirectly increase information on mechanisms involved in painful visceral diseases. The aim of this study was to evaluate the sensory and trophic changes in the flank corresponding to the referred pain area in patients with kidney stone disease.

A case report of hereditary apolipoprotein A-I amyloidosis associated with a novel APOA1 mutation and variable phenotype.

Apolipoprotein A-I (apo A-I) amyloidosis is a non-AL, non-AA, and non-transthyretin type of amyloidosis associated with mutations in the APOA1 gene inherited in an autosomal dominant fashion. It is a form of systemic amyloidosis, but at presentation, can also mimic localized amyloidosis. The renal presentation generally involves interstitial and medullary deposition of apo A-I amyloid protein.

A Model-Based Approach for Joint Analysis of Pain Intensity and Opioid Consumption in Postoperative Pain.

Joint analysis of pain intensity and opioid consumption is encouraged in trials of postoperative pain. However, previous approaches have not appropriately addressed the complexity of their interrelation in time. In this study, we applied a non-linear mixed effects model to simultaneously study pain intensity and opioid consumption in a 4-h postoperative period for 44 patients undergoing percutaneous kidney stone surgery.

How should patients with cystine stone disease be evaluated and treated in the twenty-first century?

Cystinuria continues to be one of the most challenging stone diseases. During the latest decades our knowledge of the molecular basis of cystinuria has expanded. Today 160 different mutations in the SLC3A1 gene and 116 in the SLC7A9 gene are listed.

Pathophysiological aspects of ureterorenoscopic management of upper urinary tract calculi.

Purpose Of Review: Indications for ureterorenoscopy are expanding without hard scientific evidence to support its efficacy. Therefore, it is extremely important to focus on potential harmful effects of the procedure itself. This review explores how physiology of the upper urinary tract reacts to ureterorenoscopy, potentially translating into harmful effects, and how such pathophysiological processes may be minimized.

Morphine versus oxycodone analgesia after percutaneous kidney stone surgery: a randomised double blinded study.

According to previous studies oxycodone might have some advantages over morphine in the treatment of visceral pain. This study investigated the opioid consumption (primary outcome), pain relief and side effects (secondary outcomes) of morphine versus oxycodone after percutaneous nephrolithotomy using a method where the somatic pain component was minimized. Forty-four adult patients were studied.

Prediction of postoperative pain after percutaneous nephrolithotomy: can preoperative experimental pain assessment identify patients at risk?

Postoperative pain remains a significant problem and the individual variance in postoperative pain is not fully understood. In recent years, there has been focus on identifying risk factors predicting patients with high postoperative pain intensity or consumption of analgesics, which may facilitate an improvement in rehabilitation. This study evaluates the relationship between preoperative experimental pain assessment and postoperative pain and opioid consumption.

Distension of the renal pelvis in kidney stone patients: sensory and biomechanical responses.

The pathogenesis of symptoms in urolithiasis is poorly understood. Traditionally increased endoluminal pressure is considered the main mechanism causing pain in the upper urinary tract but clinical data are sparse. The aim of the present study was to develop a new model related to mechanosensation in order to describe the geometric and mechanical properties of the renal pelvis in patients with kidney stone disease.

[Flank pain in renal and ureteral calculus].

Flank pain is common and often associated with stone colics. Similar pain characteristics can, however, be observed in other diseases. Stone colics have all the characteristics of visceral pain.

Visceral pain originating from the upper urinary tract.

Pain originating from the upper urinary tract is a common problem and stone colic is one of the most intense pain conditions that can be experienced in the clinic. The pain is difficult to alleviate and often leads to medical attention. In humans, pain mechanisms of the upper urinary tract pain are still poorly understood, which often leads to a trial and error approach in clinical pain management.