Unusual Proliferative Glomerulonephritis in a Patient Diagnosed to Have Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia (HDR) Syndrome with a Novel Mutation in the GATA3 Gene.

Hypoparathyroidism, sensorineural deafness, and renal dysplasia (HDR) syndrome is a rare autosomal dominant disease caused by GATA3 mutations. Although several cases with variable renal features have been reported, the presence of histological changes within the glomeruli in adult patients is unclear. We herein report an adult case of HDR syndrome with a novel p.C288W (TGC>TGG) missense mutation in GATA3. His renal histology showed a membranoproliferative glomerulonephritis-like glomerular lesion. Additional renal histological analyses of HDR syndrome patients will be needed to clarify the role of GATA3 in both the developing and adult kidney.

Hematopoietic Stem Cell Transplantation Nephropathy Associated with Chronic Graft-versus-Host Disease without Extrarenal Involvement.

A 30-year-old woman with myelodysplastic syndrome underwent allogeneic hematopoietic stem cell transplantation (HSCT) derived from her HLA-matched sister six years previously. She received preconditioning total body irradiation with renal shielding and was subsequently administered cyclosporin A (CyA) as prophylaxis against graft-versus-host disease (GVHD). Four months after HSCT, asymptomatic proteinuria and glomerular hematuria developed during CyA tapering without obvious extrarenal involvements of GVHD, and persisted for six years. A renal biopsy revealed endothelial injury in the glomeruli, and the deposition of C4d was detected diffusely on glomerular capillaries and focally on peritubular capillaries, suggesting that nephropathy involved antibody- or complement-associated immune reactions.

Evaluation of postoperative nephrolithiasis and renal dysfunction in gastric cancer patients.

BACKGROUND: Roux-en-Y (R-Y) gastric bypass, also known as bariatric surgery, sometimes causes postoperative hyperoxaluria and subsequent oxalate nephrolithiasis in obese patients. In this study, we retrospectively investigated the frequency of occurrence of nephrolithiasis and renal dysfunction in postoperative gastric cancer patients with respect to the surgical procedures employed. METHODS: Two hundred and twenty-six consecutive gastric cancer patients, who underwent distal gastrectomy with Billroth-I reconstruction (DGBI, 60 patients), distal gastrectomy with R-Y reconstruction (DGRY, 81 patients), and total gastrectomy with R-Y reconstruction (TGRY, 85 patients), were investigated for postoperative nephrolithiasis and renal dysfunction. We also examined the risk factors for postoperative nephrolithiasis in these patients with gastric cancer. RESULTS: Nephrolithiasis was detected in 3 (5%), 7 (9%), and 21 (25%) patients in the DGBI, DGRY, and TGRY groups, respectively. There were significant differences in the frequency of nephrolithiasis between the DGBI and TGRY groups (p = 0.004), and between the DGRY and TGRY groups (p = 0.011), but there was no significant difference between the DGBI and DGRY groups. Multivariate logistic regression analysis revealed that gender and extent of gastrectomy were independent risk factors associated with nephrolithiasis. Renal dysfunction was found in 5 patients (6%) in the TGRY group, but was not found in either the DGBI or the DGRY group. Nephrolithiasis was detected in all these 5 patients, and a renal biopsy performed in one patient revealed the presence of intratubular calcium oxalate crystals with chronic tubulointerstitial nephritis. CONCLUSION: Total gastrectomy with R-Y reconstruction was an independent predictive factor for nephrolithiasis in patients with gastric cancer.

Association of a novel in-frame deletion mutation of the MYH9 gene with end-stage renal failure: case report and review of the literature.

MYH9 disorders are autosomal dominant diseases characterized by giant platelets, thrombocytopenia, and granulocyte inclusion bodies. These diseases are caused by mutations in the MYH9 gene that encodes nonmuscle myosin heavy chain IIA. We describe the case of a 27-year-old male who presented with macrothrombocytopenia and leukocyte inclusion bodies. Chronic kidney disease, probably due to progressive glomerulosclerosis, and high-tone sensorineural deafness were evident. Although deterioration of renal function necessitated renal replacement therapy in the form of peritoneal dialysis, we reconsidered the etiology of the kidney disease due to the patient's clinical history. We identified an in-frame deletion mutation in exon 24 of the MYH9 gene that resulted in the removal of 21 nucleotides. The patient was diagnosed with an MYH9 disorder. We report this novel abnormality of the nucleotide sequence and compare it with previous cases and their associated phenotypes.

A Japanese Family Suffering from Familial Juvenile Hyperuricemic Nephropathy due to a Rare Mutation of the Uromodulin Gene.

We report the case of a Japanese family suffering from familial juvenile hyperuricemic nephropathy (FJHN) due to a rare missense mutation of the uromodulin (UMOD) gene. An 18-year-old male presented with gout, hyperuricemia, and stage 3 chronic kidney disease. Mostly, FJHN is caused by a mutation altering the cystine residue of UMOD/Tamm-Horsfall protein. However, in the present case, a T688C mutation was identified in exon 4, resulting in amino acid substitution with arginine replacing tryptophan at position 230 (Trp230Arg). This mutation was also found in his brother and father with the same phenotype, indicating autosomal dominant inheritance. The affected amino acid was conserved in 200 healthy Japanese controls. Therefore, mutation T688C most likely causes rare structural and/or functional abnormalities in UMOD/Tamm-Horsfall protein.