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SpecialtyNephrology

FSGS and Charcot-Marie-Tooth Neuropathy
original article
FSGS and Charcot–Marie–Tooth Neuropathy
December 22, 2011 | O. Boyer
and Others

The authors report that INF2 mutations are present in patients with focal segmental glomerulosclerosis (FSGS) associated with Charcot–Marie–Tooth neuropathy. The findings provide insight into mechanisms linking formin proteins to podocyte and Schwann-cell function.

A Man with Muscle Pain, Weakness, and Weight Loss
case records of the massachusetts
general hospital
A Man with Muscle Pain, Weakness, and Weight Loss
February 9, 2012 | E.P. Rhee,
J.A. Scott, and A.S. Dighe

A 37-year-old man was admitted to this hospital because of 12 hours of muscle pain and weakness, resulting in the inability to rise from bed. Brief episodes of similar symptoms had occurred during the past month. He reported blurred vision, gynecomastia, and weight loss.

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Bitter Pills
Interactive Medical Case
Bitter Pills
October 14, 2010

A 60-year-old man presented with fatigue, increasing frequency of urination, and increasing thirst. What diagnostic and management steps do you choose?

Direct the investigation of the case, test your diagnostic and therapeutic skills, and compare your performance with that of others.

Focal Segmental Glomerulosclerosis
review article
Focal Segmental Glomerulosclerosis
December 22, 2011 | V.D. D’Agati,
F.J. Kaskel, and R.J. Falk

Focal segmental glomerulosclerosis, which is characterized by progressive glomerular scarring, accounts for about 20% of cases of the nephrotic syndrome in children and about 40% in adults. This review considers current approaches to diagnosis and management of the disease.

  • CME
Tophaceous Gout
images in clinical medicine
Tophaceous Gout
January 19, 2012 | N. Samaras
and C. Rossi

A 74-year-old woman with chronic renal failure was admitted for diarrhea and functional impairment. She was noted to have a tender, soft swelling of the medial and distal phalanx of the right index finger. She reported consuming a bottle of wine daily.

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Prolonged Survival of Human-Kidney Homografts by Immunosuppressive Drug Therapy
original article
Prolonged Survival of Human-Kidney
Homografts by Immunosuppressive Drug Therapy
June 13, 1963 | J.E. Murray and Others

This report is a summary of the authors' experience with kidney homografts in 13 patients treated with drugs as the sole modality for the suppression of immunity. This report permits a note of cautious optimism in a problem that ten years earlier was considered almost insoluble.

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  • Case Records of the Massachusetts General Hospital

    Case 4-2012 — A 37-Year-Old Man with Muscle Pain, Weakness, and Weight Loss

    Presentation of Case. Dr. Ian J. Barbash (Medicine): A 37-year-old man was admitted to this hospital because of muscle pain and weakness. The patient had been well until the evening before admission, when mild diffuse myalgias developed. He awoke in the morning with diffuse muscle cramps and…

    • February 9, 2012
    • Rhee E.P., Scott J.A., Dighe A.S.
    • N Engl J Med 2012; 366:553 - 560
    • CME

    A 37-year-old man was admitted to this hospital because of 12 hours of muscle pain and weakness, resulting in the inability to rise from bed. Brief episodes of similar symptoms had occurred during the past month. He reported blurred vision, gynecomastia, and weight loss.

  • PerspectiveOnline First

    Penny Wise, Pound Foolish? Coverage Limits on Immunosuppression after Kidney Transplantation

    As a treatment for end-stage renal disease (ESRD), kidney transplantation is superior to dialysis for improving patient survival rates and quality of life. Its long-term success, however, requires ongoing treatment with immunosuppressive drugs. Ironically, although many of the pivotal discoveries…

    • February 1, 2012
    • Gill J.S. and Tonelli M.
    • 10.1056/NEJMp1114394
    • Free Full Text

    As a treatment for end-stage renal disease (ESRD), kidney transplantation is superior to dialysis for improving patient survival rates and quality of life. Its long-term success, however, requires ongoing treatment with immunosuppressive drugs. Ironically,...

  • Images in Clinical Medicine

    Tophaceous Gout

    Figure 1.

    • January 19, 2012
    • Samaras N. and Rossi C.
    • N Engl J Med 2012; 366:e6
    • Free Full Text

    A 74-year-old woman with chronic renal failure was admitted for diarrhea and functional impairment. She was noted to have a tender, soft swelling of the medial and distal phalanx of the right index finger (Panel A). She had no history of joint ...

  • Perspective

    Global Health: Facing a “Slow-Motion Disaster” — The UN Meeting on Noncommunicable Diseases

    You might think Linda Ezekiel would always be in a hurry. As the first nephrologist in Tanzania, she started and now runs her country's only public-sector dialysis unit. She is currently spearheading Tanzania's first renal transplantation program. And she manages the postoperative care of 80…

    • December 22, 2011
    • Rosenbaum L. and Lamas D.
    • N Engl J Med 2011; 365:2345 - 2348

      In September, representatives from 192 countries met at a UN conference on noncommunicable diseases, turning international attention from the devastation wrought by well-known epidemics such as those of AIDS and malaria to a quieter, though no less dangerous, threat.

    • Clinical Practice

      Primary Hyperparathyroidism

      Foreword. This Journal feature begins with a case vignette highlighting a common clinical problem. Evidence supporting various strategies is then presented, followed by a review of formal guidelines, when they exist. The article ends with the authors' clinical recommendations. Stage. A 62-year-old…

      • December 22, 2011
      • Marcocci C. and Cetani F.
      • N Engl J Med 2011; 365:2389 - 2397
      • CME
      • Full Text Audio

      This article reviews the differential diagnosis and management of primary hyperparathyroidism. For most patients, parathyroidectomy (usually by a minimally invasive approach) is recommended, but surveillance is an option for asymptomatic patients who meet certain criteria.

    • Original Article

      INF2 Mutations in Charcot–Marie–Tooth Disease with Glomerulopathy

      Charcot–Marie–Tooth disease refers to a heterogeneous group of inherited chronic peripheral motor and sensory neuropathies. Affected persons typically present with progressive distal-muscle weakness and atrophy, reduced tendon reflexes, and foot and hand deformities. Three…

      • December 22, 2011
      • Boyer O., Nevo F., Plaisier E., et al.
      • N Engl J Med 2011; 365:2377 - 2388

        The authors report that INF2 mutations are present in patients with focal segmental glomerulosclerosis (FSGS) associated with Charcot–Marie–Tooth neuropathy. The findings provide insight into mechanisms linking formin proteins to podocyte and Schwann-cell function.

      • Original Article

        Intensive Diabetes Therapy and Glomerular Filtration Rate in Type 1 Diabetes

        An impaired glomerular filtration rate (GFR) is the final common pathway of diabetic kidney disease. Once the GFR is impaired, cardiovascular disease events and progression to end-stage renal disease occur at unacceptably high rates, even with proven medical management.– This underscores the need…

        • December 22, 2011
        • The DCCT/EDIC Research Group
        • N Engl J Med 2011; 365:2366 - 2376
        • CME

        Persons with type 1 diabetes are at high risk for kidney disease. In this study, intensive diabetes therapy administered early in the course of type 1 diabetes reduced the long-term risk of an impaired glomerular filtration rate.

      • Review Article

        Medical Progress: Focal Segmental Glomerulosclerosis

        Focal segmental glomerulosclerosis accounts for approximately 20% of cases of the nephrotic syndrome in children and 40% of such cases in adults, with an estimated incidence of 7 per 1 million. It is the most common primary glomerular disorder causing end-stage renal disease in the United States,…

        • December 22, 2011
        • D'Agati V.D., Kaskel F.J., Falk R.J.
        • N Engl J Med 2011; 365:2398 - 2411
        • CME

        Focal segmental glomerulosclerosis, which is characterized by progressive glomerular scarring, accounts for about 20% of cases of the nephrotic syndrome in children and 40% in adults. This review considers current approaches to diagnosis and management of the disease.

      • Correspondence

        Combined C3b and Factor B Autoantibodies and MPGN Type II

        To the Editor: Membranoproliferative glomerulonephritis (MPGN) type II (MPGN II), also called dense-deposit disease, is a rare glomerular disease that often progresses to end-stage renal disease. MPGN II is associated with complement because of systemic C3 activation and deposition of C3 cleavage…

        • December 15, 2011
        • N Engl J Med 2011; 365:2340 - 2342
        • Free Full Text

        This letter describes two unrelated patients with membranoproliferative glomerulonephritis type 2 and autoantibodies to the two individual components of C3 convertase, factor B and C3. These autoantibodies enhance C3 convertase activity, probably leading to nephritis.

      • Clinical Problem-Solving

        A Hidden Solution

        Foreword. In this Journal feature, information about a real patient is presented in stages (boldface type) to an expert clinician, who responds to the information, sharing his or her reasoning with the reader (regular type). The authors' commentary follows. Stage. A 51-year-old woman presented to…

        • December 1, 2011
        • Pramyothin P., Leung A.M., Pearce E.N., Malabanan A.O., Braverman L.E.
        • N Engl J Med 2011; 365:2123 - 2127
        • CME

        A 51-year-old woman presented to the ER with a 6-month history of intermittent palpitations, which had worsened that day. She described her pulse as fast but regular. She also reported worsening fatigue, heat intolerance, and an 18-kg (40-lb) weight loss.

      • Review Article

        Mechanisms of Disease: Systemic Lupus Erythematosus

        Although the term "lupus erythematosus" was introduced by 19th-century physicians to describe skin lesions, it took almost 100 years to realize that the disease is systemic and spares no organ and that it is caused by an aberrant autoimmune response. The clinical heterogeneity of the disease forced…

        • December 1, 2011
        • Tsokos G.C.
        • N Engl J Med 2011; 365:2110 - 2121

          The author reviews environmental, genetic, epigenetic, and hormonal factors in systemic lupus erythematosus, its diverse organ manifestations, and the myriad immune abnormalities that characterize this autodestructive disease, which mainly affects women of childbearing age.

        • Editorial

          Toward Better Treatment for Lupus Nephritis

          Systemic lupus erythematosus is a prototypical autoimmune disease that can potentially involve every organ. Its clinical spectrum is therefore extremely heterogeneous and varies from relatively mild cases (e.g. involving only the skin or joints) to life-threatening manifestations, with renal…

          • November 17, 2011
          • Houssiau F.A.
          • N Engl J Med 2011; 365:1929 - 1930

            Systemic lupus erythematosus is a prototypical autoimmune disease that can potentially involve every organ. Its clinical spectrum is therefore extremely heterogeneous and varies from relatively mild cases (e.g., involving only the skin or joints) to life-...

          • Original Article

            Mycophenolate versus Azathioprine as Maintenance Therapy for Lupus Nephritis

            Systemic lupus erythematosus is an autoimmune disorder often characterized by the development of glomerulonephritis. Renal involvement remains the strongest predictor of morbidity and mortality among patients with lupus, and despite improvements in the management of lupus, the incidence of end…

            • November 17, 2011
            • Dooley M.A., Jayne D., Ginzler E.M., et al.
            • N Engl J Med 2011; 365:1886 - 1895

              In this double-blind, randomized trial, mycophenolate mofetil was superior to azathioprine for maintaining a renal response and preventing relapse in patients with lupus nephritis who had had a response to induction therapy.

            • Original Article

              Epidemic Profile of Shiga-Toxin–Producing Escherichia coli O104:H4 Outbreak in Germany

              On May 19, 2011, the Robert Koch Institute, Germany's national-level public health authority, was informed about a cluster of three cases of the hemolytic–uremic syndrome in children admitted on the same day to the university hospital in the city of Hamburg. On May 20, a team from the Robert Koch…

              • November 10, 2011
              • Frank C., Werber D., Cramer J.P., et al.
              • N Engl J Med 2011; 365:1771 - 1780

                An epidemic of foodborne infection with Escherichia coli associated with a high rate of the hemolytic–uremic syndrome and caused by a novel E. coli strain (O104:H4) recently occurred in Germany. This final report updates epidemiologic, clinical, and microbiologic information.

              • Original Article

                German Outbreak of Escherichia coli O104:H4 Associated with Sprouts

                Human infection with Shiga-toxin–producing Escherichia coli is a major cause of postdiarrheal hemolytic–uremic syndrome. This life-threatening disorder, which is characterized by acute renal failure, hemolytic anemia, and thrombocytopenia, typically affects children under the age of 5 years.…

                • November 10, 2011
                • Buchholz U., Bernard H., Werber D., et al.
                • N Engl J Med 2011; 365:1763 - 1770

                  In May 2011, an outbreak of the hemolytic–uremic syndrome associated with Shiga-toxin–producing Escherichia coli O104:H4 occurred in northern Germany. In this report, the investigation identified sprouts as the likely transmission vehicle.

                • Editorial

                  Deconstructing a Lethal Foodborne Epidemic

                  Beginning in early May 2011, northern Germany was the principal site of a massive epidemic of bloody diarrhea and the hemolytic–uremic syndrome caused by Shiga-toxin–producing Escherichia coli. By the time the outbreak ended in early July, there were reports of more than 4000 illnesses, 800…

                  • November 10, 2011
                  • Blaser M.J.
                  • N Engl J Med 2011; 365:1835 - 1836

                    Beginning in early May 2011, northern Germany was the principal site of a massive epidemic of bloody diarrhea and the hemolytic–uremic syndrome caused by Shiga-toxin–producing Escherichia coli. By the time the outbreak ended in early July, there were ...

                  • Images in Clinical Medicine

                    Metastasis of Renal-Cell Carcinoma

                    Figure 1.

                    • November 3, 2011
                    • Pugliese F. and Pagliuca V.
                    • N Engl J Med 2011; 365:e38
                    • Free Full Text

                    Four years after a right nephrectomy for renal-cell carcinoma, an 89-year-old man was referred for evaluation of a pulsating mass on the fourth digit of the right hand. The mass had increased in size during the preceding 3 months after minor trauma to the finger.

                  • Case Records of the Massachusetts General Hospital

                    Case 33-2011 — A 56-Year-Old Man with Hypophosphatemia

                    Presentation of Case. Dr. Eric Hesse (Harvard School of Dental Medicine): A 56-year-old man was seen in the outpatient endocrinology and oral-surgery clinics of this hospital because of recurrent hypophosphatemia. The patient had been well until 19 years earlier, when rib pain developed and a left…

                    • October 27, 2011
                    • Bergwitz C., Collins M.T., Kamath R.S., Rosenberg A.E.
                    • N Engl J Med 2011; 365:1625 - 1635
                    • CME

                    A 56-year-old man presented with recurrent bone pain, stress fractures, and hypophosphatemia. A tumor of the jaw had been resected in the past, with resolution of symptoms. Studies of the jaw revealed no recurrent tumor. Diagnostic tests were performed.

                  • Correspondence

                    Induced Immune Tolerance for Kidney Transplantation

                    To the Editor: Recipients of kidney transplants require the lifelong use of immunosuppressive drugs to prevent graft rejection, but immunosuppressive medications are associated with cumulative side effects, including increased risks of heart disease, infection, cancer, and diabetes. Despite…

                    • October 6, 2011
                    • N Engl J Med 2011; 365:1359 - 1360
                    • Free Full Text

                    In this study, patients who received HLA-matched kidney transplants received a donor-cell infusion of highly enriched CD34+ hematopoietic progenitor cells mixed with CD3+ T cells, and a conditioning regimen of total lymphoid irradiation and anti–T-cell antibodies.

                  • Case Records of the Massachusetts General Hospital

                    Case 30-2011 — A 62-Year-Old Woman with Renal Failure

                    Presentation of Case. Dr. Kyle Staller (Medicine): A 62-year-old woman was admitted to this hospital because of renal failure. The patient had an autoimmune overlap syndrome with polymyositis, treated with prednisone and mycophenolate mofetil, but had been in her usual health until 6 weeks before…

                    • September 29, 2011
                    • Cunningham J., Harisinghani M.G., Taheri D.
                    • N Engl J Med 2011; 365:1233 - 1243
                    • CME

                    A 62-year-old woman with autoimmune overlap syndrome and polymyositis presented to this hospital with anemia, thrombocytopenia, and acute renal failure. Four days before admission, she was found on the floor of her home, confused and minimally conversant.

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