Kidney stones

SR Khan, MS Pearle, WG Robertson… - Nature reviews Disease …, 2016 - nature.com
Kidney stones are mineral deposits in the renal calyces and pelvis that are found free or
attached to the renal papillae. They contain crystalline and organic components and are …

[HTML][HTML] Genetics of kidney stone disease

SA Howles, RV Thakker - Nature Reviews Urology, 2020 - nature.com
Kidney stone disease (nephrolithiasis) is a common problem that can be associated with
alterations in urinary solute composition including hypercalciuria. Studies suggest that the …

[PDF][PDF] Urolithiasis

A Skolarikos, A Neisius, A Petřík… - … at the EAU …, 2022 - docred-strapi-cms-prod.s3.sa-east-1 …
The European Association of Urology (EAU) Urolithiasis Guidelines Panel has prepared
these guidelines to help urologists assess evidence-based management of stones/calculi in …

Metabolic evaluation and recurrence prevention for urinary stone patients: an EAU guidelines update

A Skolarikos, B Somani, A Neisius, H Jung, A Petřík… - European Urology, 2024 - Elsevier
Background and objective The aim of this review was to define patients who are at high risk
of recurrence of urolithiasis, to delineate diagnostic and therapeutic algorithms for each type …

Cystinuria: genetic aspects, mouse models, and a new approach to therapy

A Sahota, JA Tischfield, DS Goldfarb, MD Ward, L Hu - Urolithiasis, 2019 - Springer
Cystinuria, a genetic disorder of cystine transport, is characterized by excessive excretion of
cystine in the urine and recurrent cystine stones in the kidneys and, to a lesser extent, in the …

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

KH Andreassen, KV Pedersen, SS Osther, HU Jung… - Urolithiasis, 2016 - Springer
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 …

Amino acid transport defects in human inherited metabolic disorders

R Yahyaoui, J Pérez-Frías - International journal of molecular sciences, 2019 - mdpi.com
Amino acid transporters play very important roles in nutrient uptake, neurotransmitter
recycling, protein synthesis, gene expression, cell redox balance, cell signaling, and …

Pharmacological interventions for the management of cystinuria: a systematic review

NP Bhatt, AV Deshpande, MR Starkey - Journal of nephrology, 2024 - Springer
Background Cystinuria is a rare genetic kidney stone disease, with no cure. Current
treatments involve lowering urinary cystine levels and increasing cystine solubility. This …

[HTML][HTML] Cystinuria—a urologist's perspective

K Thomas, K Wong, J Withington, M Bultitude… - Nature Reviews …, 2014 - nature.com
Cystinuria is a genetic disease that leads to frequent formation of stones. In patients with
recurrent stone formation, particularly patients< 30 years old or those who have siblings with …

Cystinuria: current diagnosis and management

P Saravakos, V Kokkinou, E Giannatos - Urology, 2014 - Elsevier
Cystinuria is an inherited disorder of the dibasic amino acid transport system in the proximal
tubule and the small intestine. Two responsible genes have been identified, the SLC3A1 on …