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 …

Cystinuria: an update on pathophysiology, genetics, and clinical management

V D'Ambrosio, G Capolongo, D Goldfarb… - Pediatric …, 2022 - Springer
Cystinuria is the most common genetic cause of nephrolithiasis in children. It is considered a
heritable aminoaciduria as the genetic defect affects the reabsorption of cystine and three …

Acute and chronic kidney injury in nephrolithiasis

X Tang, JC Lieske - Current opinion in nephrology and …, 2014 - journals.lww.com
Obstructive nephropathy and crystalline nephropathy both contribute to nephrolithiasis-
associated AKI, although the latter appears to have a worse prognosis. Nephrolithiasis is an …

Update on cystine stones: current and future concepts in treatment

M Moussa, AG Papatsoris, M Abou Chakra… - Intractable & Rare …, 2020 - jstage.jst.go.jp
Cystine stones are relatively uncommon compared with other stone compositions,
constituting just 1% to 2% of adult urinary tract stone diseases, and accounting for up to 10 …

[HTML][HTML] Early recognition and management of rare kidney stone disorders

R Goldstein, DS Goldfarb - Urologic nursing, 2017 - ncbi.nlm.nih.gov
Early Recognition and Management Of Rare Kidney Stone Disorders - PMC Back to Top
Skip to main content NIH NLM Logo Access keys NCBI Homepage MyNCBI Homepage …

Cystinuria Complicated by Anuria From Bilateral Obstructing Stones Requiring Bilateral Mini Percutaneous Nephrolithotomy in a 22-Month-Old

AR Chait, S Hassig, J Cubillos, R Jain, SO Quarrier - Urology, 2024 - Elsevier
Pediatric nephrolithiasis is increasing in incidence and presents differently compared to
adults. We report a case of nephrolithiasis in a pediatric patient, presenting with complaints …

Evaluation of Children with Cystine Stones: A single-Center Experience

Ş ÇAYCI, A Banu, T Tiryaki… - Türkiye Çocuk …, 2022 - dergipark.org.tr
Introduction: Cystinuria is a rare genetic disorder. Many patients suffer from significant
recurrent urolithiasis, repeated surgical interventions and the risk of progressive renal …

Urgent percutaneous nephrolithotomy for acute kidney injury secondary to bilateral stones: Is it safe and effective in infants?

Y Shao, WH Li, S Hasimu, D Shan, J Lu, SJ Xia - World journal of urology, 2015 - Springer
Purpose To evaluate the efficacy and safety of urgent percutaneous nephrolithotomy (PNL)
for acute kidney injury secondary to bilateral upper urinary stones in infants. Methods A total …

Acute Renal Failure in Children

FE Avni, A Lahoche - Imaging Acute Abdomen in Children, 2018 - Springer
In case of acute renal failure (ARF), the primary role of imaging is to exclude post-renal
obstructive causes by demonstrating bilateral urinary tract dilatation (unilateral in case of a …

[HTML][HTML] Case Report Chronic Renal Failure in Boy with Bilateral Cystine Nephrolithiasis

MA Arrabal-Polo, MC Cano-García… - HK J Paediatr (new …, 2017 - hkjpaed.org
Cystinuria is a rare cause of stone disease and has a peak age of presentation in the third
decade of life. However, it can also present during the first decade of life with acute renal …