nephrolithiasis causes

Primary hyperparathyroidism (PHPT) is characterized by an elevation in serum calcium levels, sometimes leading to aggravated clinical conditions, namely nephrolithiasis, nephrocalcinosis, and/or fractures. A 55-year-old patient was admitted to the hospital with acute obstructive pyelonephritis in March 2021, having another episode one year later. Initial blood and urine analysis detected inflammatory markers, namely C-reactive protein, and the presence of leucocytes and blood in the urine. The renal computed tomography scan exhibited renal asymmetry, nephrocalcinosis, and multiple kidney stones...

BACKGROUND: Hereditary renal hypouricemia (RHUC) is a heterogenous disorder characterized by defective uric acid (UA) reabsorption resulting in hypouricemia and increased fractional excretion of UA. RHUC is an important cause of exercise-induced acute kidney injury (EIAKI), nephrolithiasis and posterior reversible encephalopathy syndrome (PRES). We present here an unusual case of a patient with RHUC who presented with recurrent EIAKI and had two heterozygous mutations in the SLC2A9 gene...

PURPOSE: Flank pain associated with stone disease is typically caused by a stone that obstructs urine flow. However, it is plausible that nonobstructing kidney stones may still cause pain. We performed a multicenter, observational trial to evaluate whether treatment of small nonobstructing calyceal stones improves pain and kidney stone-specific health-related quality of life. MATERIALS AND METHODS: Patients aged 18 years or older with nonobstructing renal stone(s) up to 10 mm in longest diameter and moderate to severe pain were recruited...

BACKGROUND: Oxalate nephropathy (ON) is characterized by deposition of calcium oxalate crystals in the kidney and is commonly underrecognized. Causes of ON include primary hyperoxaluria, enteric hyperoxaluria and ingestion of excess oxalate or its precursors. METHODS: We report the clinical and pathological characteristics of one of the largest series of native kidney oxalate nephropathy to date, from January 2015 to March 2023 at the Cleveland Clinic. RESULTS: We identified 60 native biopsies with oxalate deposits and excluded patients with clinically insignificant biopsies (n=12) or lack of data (n=17)...

Emergency physicians (EPs) frequently integrate point-of-care ultrasound (POCUS) into the initial bedside evaluation of patients presenting to the emergency department with acute flank pain. A POCUS-first diagnostic approach can allow EPs to promptly assess for life-threatening pathologies of the aorta and gallbladder. POCUS is also a critical bedside tool to determine renal causes of acute flank pain, such as hydronephrosis in the setting of nephrolithiasis, subcapsular hematomas, renal abscesses, pyelonephritis, and renal masses...

BACKGROUND: The objective of this study was to explore the frequency of occurrence of extra-renal manifestations associated with monogenic nephrolithiasis. METHODS: A literature review was conducted to identify genes that are monogenic causes of nephrolithiasis. The Online Mendelian Inheritance in Man (OMIM) database was used to identify associated diseases and their properties. Disease phenotypes were ascertained using OMIM clinical synopses and sorted into 24 different phenotype categories as classified in OMIM...

Primary hyperparathyroidism (PHPT), a relatively common disorder characterized by hypercalcemia with raised or inappropriately normal serum parathyroid hormone (PTH) concentrations, may occur as part of a hereditary syndromic disorder or as a non-syndromic disease. The associated syndromic disorders include multiple endocrine neoplasia types 1-5 (MEN1-5) and hyperparathyroidism with jaw tumor (HPT-JT) syndromes, and the non-syndromic forms include familial hypocalciuric hypercalcemia types 1-3 (FHH1-3), familial isolated hyperparathyroidism (FIHP), and neonatal severe hyperparathyroidism (NS-HPT)...

Spinal subarachnoid hemorrhage is a rare condition, and it generally arises as a consequence of arteriovenous malformation, although more rarely can be caused by aneurysm, dissection, or pseudoaneurysm. In the following, we present a case of a 58-year-old male who while undergoing treatment for nephrolithiasis, developed persistent hypertension, refractory to his home medications, along with headache, neck pain, and unilateral ptosis and upper extremity ataxia. Initial CT scan demonstrated acute subarachnoid hemorrhage in the posterior fossa extending to the C7 level, Angiography ultimately revealed a focal irregularity compatible with dissection and 1mm pseudoaneurysm within the left anterior spinal artery radiculomedullary feeder at the C5-6 level...

Primary hyperparathyroidism (PHPT) and familial hypocalciuric hypercalcemia (FHH) are the main differential diagnoses in a patient presenting with parathyroid hormone (PTH)-mediated hypercalcemia. PHPT is most often caused by a single-gland parathyroid adenoma and FHH is the result of an inactivating mutation of the calcium-sensing receptor (CaSR) gene. In this paper, we present a unique case of the co-existence of an inactivating CaSR gene mutation and PHPT due to a single-gland parathyroid adenoma. The patient is a 67-year-old female with a history of recurrent nephrolithiasis who presented with hypercalcemia, elevated PTH level, and hypocalciuria...

Kidney stone disease is a common condition with an increasing prevalence. Diet is an important, modifiable risk factor of an individual's risk of developing kidney stone disease, particularly for those without genetic causes of kidney stone disease. Prospective and epidemiological evidence suggest that adequate fluid intake, limited sodium ingestion, and sufficient calcium and potassium intake can decrease the risk of developing kidney stones. Metabolic risk factors for KSD found on 24-hour urine studies can be used to tailor dietary modifications recommended to reduce subsequent risk of kidney stone formation...

Hyperoxaluria is a clinically relevant metabolic entity that portends a high morbidity burden. Primarily manifesting as kidney stone disease and chronic kidney disease, advanced hyperoxaluria can also affect major organs, including the brain, heart, liver, bone, and the skin. It is categorized based on etiology into primary and secondary hyperoxaluria. Pathology is attributed to excess de novo oxalate production in the former and multifactorial exogenous oxalate absorption or excess intake of its precursors in the latter...

Dent disease (DD) is an X-linked renal tubulopathy characterized by low-molecular-weight proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis and progressive renal failure. Two-thirds of cases are associated with inactivating variants in the CLCN5 gene (Dent disease 1, DD1) and a few present variants in the OCRL gene (Dent disease 2, DD2). The aim of the present study was to test the effect on the pre-mRNA splicing process of DD variants, described here or in the literature, and describe the clinical and genotypic features of thirteen unrelated patients with suspected DD...

The tubular system of the kidneys is a complex series of morphologic and functional units orchestrating the content of tubular fluid as it flows along the nephron and collecting ducts. Renal tubules maintain body water, regulate electrolytes and acid-base balance, reabsorb precious organic solutes, and eliminate specific metabolites, toxins, and drugs. In addition, decisive mechanisms to adjust blood pressure are governed by the renal tubules. Genetic as well as acquired disorders of these tubular functions may cause serious diseases that manifest both in childhood and adulthood...

BACKGROUND: Three types of primary hyperoxaluria (PH) are recognized. However, data on PH type 2 (PH2), caused by defects in the GRHPR gene, are limited. METHODS: We reviewed the medical records of patients < 18 years of age with genetically-proven PH2 from seven centres across India to identify the age of onset, patterns of clinical presentation, short-term outcomes and genetic profile, and to determine if genotype-phenotype correlation exists. RESULTS: We report 20 patients (all with nephrolithiasis or nephrocalcinosis) diagnosed to have PH2 at a median (IQR) age of 21...

Urolithiasis composed of pyrophosphate salts has only been reported in animals, in the form of potassium magnesium pyrophosphate. However, there have been no reports of pyrophosphate stones in humans. Hypophosphatasia is an inherited disease characterized by low alkaline phosphatase activity and elevated levels of pyrophosphate in blood and urine. Urolithiasis is a part of the hypophosphatasia phenotype. The role of elevated urine pyrophosphate levels in the formation of stones in hypophosphatasia is unknown...

Hypercalcemia is a complex medical condition characterized by elevated levels of serum calcium (>10.5 mg/dL) in the bloodstream, often arising from various underlying etiologies. This condition presents a significant clinical challenge due to its diverse clinical manifestations and potential for serious complications. Profiling and understanding hypercalcemia is essential for accurate diagnosis, appropriate management, and improved patient outcomes. In this study, we delve into the comprehensive profiling of hypercalcemia, encompassing its epidemiology, pathophysiology, clinical presentation, and diagnostic approaches...

IMPORTANCE: Cryptogenic sensory peripheral neuropathy (CSPN) is highly prevalent and often disabling due to neuropathic pain. Metabolic syndrome and its components increase neuropathy risk. Diet and exercise have shown promise but are limited by poor adherence. OBJECTIVE: To determine whether topiramate can slow decline in intraepidermal nerve fiber density (IENFD) and/or neuropathy-specific quality of life measured using the Norfolk Quality of Life-Diabetic Neuropathy (NQOL-DN) scale...

Nephrolithiasis is highly prevalent and associated with the increased risk of kidney cancer. The tumor suppressor von Hippel-Lindau (VHL) is critical for renal cancer development, however, its role in kidney stone disease has not been fully elucidated until now. Here we reported VHL expression was upregulated in renal epithelial cells upon exposure to crystal. Utilizing Vhl+/mu mouse model, depletion of VHL exacerbated kidney inflammatory injury during nephrolithiasis. Conversely, overexpression of VHL limited crystal-induced lipid peroxidation and ferroptosis in a BICD2-depdendent manner...

Background Although Nephrolithiasis is a common condition caused by a wide variety of metabolic or environmental disturbances, its being one of the major factor of morbidity. Incidence of kidney stone disease (KSD) is highly affected by metabolic disorders and change in blood pressure and glucose. Objective To find out association of different biochemical and hemodynamic parameters with various glycemic status and hypertension in kidney stone disease. Method A cross sectional study was conducted in patients diagnosed as nephrolithiasis by using re¬nal ultrasonography and underwent nephrectomy between January 2019 to January 2021 in Shahid Dharmabhakta National Transplant Centre (SDNTC)...

Caffeine is a well-known purine alkaloid commonly found in coffee. Several lines of previous and recent evidence have shown that habitual coffee drinking is associated with lower risks for chronic kidney disease (CKD) and nephrolithiasis. However, cellular and molecular mechanisms underlying its renoprotective effects remain largely unknown due to a lack of knowledge on cellular adaptive response to caffeine. This study investigated cellular adaptive response of renal tubular cells to caffeine at the protein level...