ABSTRACT
Although renal hypouricemia is mostly asymptomatic, it is known to present a high risk of exercise-induced acute renal failure, especially in young males. However, there is little information regarding the clinical features of urolithiasis as a complication in childhood renal hypouricemia. Here we report a 4-year old female with idiopathic renal hypouricemia who presented with macroscopic hematuria due to obstructive calcium oxalate urolithiasis. She was treated successfully with percutaneous nephrolithotripsy and thereafter hematuria disappeared. Sequence analysis of the patient and her family's URAT1 gene confirmed a nonsense mutation in exon 4 (W258X). To the best of our knowledge, this is the youngest case of hereditary renal hypouricemia caused by URAT1 gene mutation, which was found by hematuria due to calcium oxalate urolithiasis.
Subject(s)
Calcium Oxalate/metabolism , Renal Tubular Transport, Inborn Errors/complications , Urinary Calculi/complications , Urolithiasis/etiology , Child, Preschool , Female , Humans , Organic Anion Transporters/genetics , Organic Cation Transport Proteins/genetics , Renal Tubular Transport, Inborn Errors/genetics , Urinary Calculi/geneticsABSTRACT
A 73-year-old man with suspected lymphoproliferative disorder was introduced to our hospital. The patient demonstrated palpable hard masses in the abdomen. Enhanced computed tomography of the abdomen and pelvis revealed a bulky mass of para-aortic lymph nodes. Biopsy of left-sided supraclavicular lymph nodes revealed metastatic adenocarcinoma. Serum tumor markers were examined, revealing prostate-specific antigen (PSA) levels of 3,354.0 ng/ml. Rectal examinations revealed a stony-hard prostatic mass. Biopsy of the prostate disclosed poorly to moderately differentiated adenocarcinoma. Although metastases to the supraclavicular lymph nodes are rare in prostate cancer, it should be distinguished from malignant lymphoma and other malignancies.
