Case Study in 2009

This article considers the case of a 25-year-old woman with a medical history notable for joint laxity and hypermobility syndrome. She had recurrent episodes of severe, right-sided abdominal and flank discomfort, intermittent gross hematuria, and sensation of a mass on her right side. Intravenous pyelography led to a diagnosis of nephroptosis.

In this Case Study, Hladunewich and colleagues describe the case of a woman with a twin pregnancy with a single fetal demise who presented earlier than 20 weeks' gestation with severe nephrotic syndrome, hypertension and renal insufficiency. The authors describe how aberrant levels of anti-angiogenic and angiogenic factors helped confirm the diagnosis of pre-eclampsia in this complex renal presentation, allowing for the rapid discontinuation of unnecessary immunosuppressive agents and the avoidance of the potential risks inherent with diagnostic renal biopsy.

Interferon, which is widely used to treat chronic hepatitis C virus infection, plays a critical role in the pathogenesis and perpetuation of certain autoimmune diseases, including systemic lupus erythematosus. In this Case Study, Agarwal and colleagues present the case of a patient on hemodialysis who experienced systemic lupus erythematosus exacerbation with cerebritis following treatment of her hepatitis C virus infection with pegylated interferon monotherapy.

Zuber and colleagues from Paris describe a case of diabetes that developed after renal transplantation in a young, white, nonobese man. Genetic screening detected a newly described deletion in the gene encoding hepatocyte nuclear factor 1 homeobox B,HNF1B, indicating that mutations in HNF1Bmight account for some 'unexpected' cases of new-onset diabetes after transplantation. Minimization of tacrolimus exposure and withdrawal of steroids markedly reduced the patient's insulin requirement.

The lesions associated with the rare granulomatosus disease malacoplakia, which can result in serious complications, are often mistaken for renal abscesses or malignant growths. Sanchez and colleagues describe the presentation of a woman whose malacoplakia involved both ureters and the bladder and required the placement of bilateral percutaneous nephrostomy tubes.

Prakash and colleagues highlight the case of a 60-year-old man who was referred to a nephrology clinic with an elevated serum creatinine level. Investigations revealed that he had been taking a herbal remedy containing a large amount of lead. Following discontinuation of the remedy and several sessions of lead chelation, his creatinine level declined. This case highlights the need for clinicians to consider lead in the differential diagnosis and prognosis of patients with chronic kidney disease.

Fabry disease, a rare lysosomal storage disorder, predominantly affects males due to its X-linked inheritance pattern. Here, Abaterusso and colleagues describe a heterozygous female who developed severe Fabry disease-related renal disease with neither proteinuria nor microalbuminuria. This case highlights the importance of considering heterozygous females not merely as 'carriers' of Fabry disease, and emphasizes that the absence of microalbuminuria and proteinuria does not rule out chronic kidney disease in Fabry disease.

Kidney involvement can be a serious complication of hematopoietic stem cell transplantation. In this Case Study, Fofi and colleagues describe a rare case of focal segmental glomerulosclerosis occurring as a complication of chronic graft-versus-host disease following peripheral blood stem cell transplantation.

Authors from the University of Colorado describe a 31-year-old white female with tuberous sclerosis complex who was diagnosed with very large bilateral angiomyolipoma of the kidneys after developing symptoms of urinary tract infection and septic shock. The lack of surveillance throughout the course of the patient's disease prevented early intervention before the development of end-stage renal disease and the need for bilateral nephrectomy. This case illustrates the importance of regular follow-up in patients with tuberous sclerosis complex.