Pure xanthine pediatric urolithiasis: A cause of acute renal failure

Publication date: January 2021Source: Urology Case Reports, Volume 34Author(s): Musab Umair, Syed Zafar Hussain, Afra Khan, Badar Murtaza, Omer Farooq Rehman, Muhammad Nawaz
Source: Urology Case Reports - Category: Urology & Nephrology Source Type: research

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Hyperoxaluria, a rare metabolic disorder associated with increased serum oxalate deposits in the skin, kidneys, and other organs, can be primary or secondary.1 Primary hyperoxaluria (PH) types 1 (PH-1) and 2 (PH-2) are autosomal recessive. The most common type, PH-1, results from deficiency of alanine-glyoxylate aminotransferase causing accumulation of glyoxalate and oxalate.1,2 The patient in this report had the most prevalent juvenile form of PH-1, characterized by recurrent calcium oxalate kidney stones preceding development of renal failure.
Source: Mayo Clinic Proceedings - Category: Internal Medicine Authors: Tags: Medical image Source Type: research
We report two cases of APRT deficiency from our center. DNA sequencing of APRT gene performed in one of the cases revealed a pathogenic variant in Exon1 of APRT gene (c.3G>C; p.Met1). This variant affects the translation initiation codon and results in a start loss. The variant has previously been reported in two cases with APRT deficiency.
Source: Indian Journal of Nephrology - Category: Urology & Nephrology Authors: Source Type: research
A 47-year-old man with a past medical history of renal stones in the last year was admitted to the intensive care unit with ventricular fibrillation requiring defibrillation and acute renal failure, with a serum creatinine level of 3.0 mg/d (estimated glomerular filtration rate 24.0 ml/min).
Source: Kidney International - Category: Urology & Nephrology Authors: Tags: Make Your Diagnosis Source Type: research
In this report, we discuss the identification and management of this rare condition.
Source: Urology - Category: Urology & Nephrology Authors: Tags: Pediatric Case Reports Source Type: research
Abstract This review is devoted to rheumatologic diseases mainly characterized by different types of arthritis. They may involve also different organs, including the kidney, but renal disease is more frequently caused by the nephrotoxicity of drugs to relieve pain or to interfere with the pathophysiology of the underlying disease. Rheumatoid arthritis is the prototype of arthropathies. This autoimmune disease mainly attacks joints, tendons and ligaments but can also involve internal organs including the kidney. Psoriatic arthritis is a complex disease in which psoriasis, a chronic inflammatory disease, is associat...
Source: Journal of Nephrology - Category: Urology & Nephrology Authors: Tags: J Nephrol Source Type: research
ConclusionThis study provides a special case which is phenotype ‐driven dual diagnoses, and the two novel variants can parsimoniously explain the complex clinical presentations of this patient.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: ORIGINAL ARTICLE Source Type: research
This study aimed to investigate whether Ononis spinosa L. has a litholytic effect on kidney stones with different chemical patterns.Materials and MethodsUrinary stones extracted from seven patients over 18 years of age during surgery were used as the study material. Each urinary stone was divided into two parts, one of which was left in a solution prepared with O. spinosa L. and the other constituted the control sample. The amount of calcium, phosphor and uric acid passing through each solution was detected by spectrophotometric analysis to assess its efficiency and determine whether or not the urinary stones were dissolve...
Source: Journal of Herbal Medicine - Category: Complementary Medicine Source Type: research
We describe the phenotype of the Prodh2 knock out mouse model and show that the lack of HYPDH in PH mouse models results in lower levels of urinary oxalate excretion, consistent with our previous metabolic tracer and siRNA-based knockdown studies. The double knockout mouse, Grhpr KO (PH2 model) and Prodh2 KO, prevented calcium-oxalate crystal deposition in the kidney, when placed on a 1% Hyp diet. These observations support the use of the Grhpr KO mice to screen HYPDH inhibitors in vivo. Altogether these data support HYPDH as an attractive therapeutic target for PH2 and PH3 patients.Graphical abstract
Source: Biochimica et Biophysica Acta (BBA) Molecular Basis of Disease - Category: Molecular Biology Source Type: research
In conclusion, to the best of our knowledge, this is the first report of a RHUC2 patient with a GLUT9 mutation, p.W286X, which may be a pathogenic mutation of RHUC2. Further investigation into the functional role of GLUT9 in this novel SLC2A9 mutation is required. PMID: 31638209 [PubMed - as supplied by publisher]
Source: Molecular Medicine Reports - Category: Molecular Biology Tags: Mol Med Rep Source Type: research
Although renal failure and sepsis are occasional complications of nephrolithiasis, a spontaneous perirenal hematoma is another possible consequence of nephrolithiasis. Early recognition of this occasional complication of renal stone disease can facilitate a favorable outcome. Herein, we illustrate the clinical and imaging findings of a patient with spontaneous perirenal hematoma due to urinary stone disease.
Source: The Journal of Emergency Medicine - Category: Emergency Medicine Authors: Tags: Visual Diagnosis in Emergency Medicine Source Type: research
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