William Kern

Vitamin C-induced hyperoxaluria causing reversible tubulointerstitial nephritis and chronic renal failure: a case report.

Vitamin C is a precursor of oxalate and promoter of its absorption, potentially causing hyperoxaluria. Malabsorption causes Calcium (Ca) chelation with fatty acids, producing enteric hyperoxaluria.CaseA 73-year-old man with both risk factors was hospitalized with serum creatinine of 8.4 mg/dL (versus 1.2 mg/dL four months earlier) (normal 0.6–1.3 mg/dL). Given his oxalate-rich diet, chronic diarrhea, and daily 680 mg vitamin C and furosemide, we postulated Ca oxalate-induced nephropathy, a diagnosis confirmed by documenting hyperoxaluria, and finding of diffuse intraluminal crystals and extensive interstitial fibrosis on biopsy. He was hemodialysed 6 times to remove excess oxalate. Two weeks off vitamin C, his creatinine spontaneously fell to 3.1 mg/dL. Three months later, on low oxalate diet and 100 mg vitamin B6, urine oxalate to creatinine ratio decreased from 0.084 to 0.02 (normal < 0.035), while creatinine fell and stayed at 1.8 mg/dL.Conclusion1) High-dose vitamin C can induce hyperoxaluric nephropathy and progressive renal failure, especially if aggravated by diarrhea, oxalate-rich diet, metabolic acidosis, and dehydration. 2) The diagnosis should be suspected in unexplained renal insufficiency when associated with these risk factors. 3) Since prompt treatment could avert end-stage renal disease, we recommend monitoring urinary oxalate in patients on high-dose vitamin C and renal biopsy if necessary.

Granulocytic sarcoma presenting with malignant anasarca in a patient with secondary acute myeloid leukemia

Granulocytic sarcomas (GS) are rare extramedullary tumor masses composed of immature cells derived from the hematopoietic myeloid series. GS occur in 3% to 7% of cases of acute myeloid leukemia (AML) and can present before, during, or even after the diagnosis of AML. GS can involve different organs, individually or simultaneously, including the skin, lymph nodes, bone, breast, central nervous system, and lung among others. GS involving peritoneal and pleural fluids is a rare presentation. We present an unusual case of a patient with myelodysplastic syndrome whose disease progressed into a secondary AML and developed GS in the ascitic and pleural effusions as the predominant manifestation of disease progression.

Successful management of gelatinous transformation of the bone marrow in anorexia nervosa with hematopoietic growth factors.

Serous atrophy or gelatinous transformation of the bone marrow (GMT), often seen with severe nutritional deprivation in Anorexia Nervosa (AN), is characterized by hypocellularity and patchy or diffuse replacement of the bone marrow with hyaluronic acid-like mucopolysaccharide material. Treatment with nutritional support alone is often temporary due to the relapsing nature of AN. We present the case of a patient with pancytopenia due to GMT who had multiple prior hospitalizations for infections and blood transfusions. Nutritional support was inadequate in restoring her bone marrow function. She was successfully treated with hematopoietic growth factors and achieved a sustained hematopoietic recovery. In addition, use of growth factors resulted in a 91% reduction in the cost of health care delivered to this patient.

Identification of t(15;17) and a segmental duplication of chromosome 11q23 in a patient with acute myeloblastic leukemia M2.

A 32-year-old man was newly diagnosed with acute myelocytic leukemia, classified as acute myeloblastic leukemia with maturation (AML-M2) according to the French-American-British classification system. Conventional chromosome analysis before chemotherapy treatment revealed an abnormal karyotype: a possible segmental duplication of 11q23, plus a translocation between chromosomes 15 and 17 [t(15;17) (q22;q21.1)] in the majority of cells analyzed. Fluorescence in situ hybridization analysis using commercially available probes confirmed the cytogenetic findings. To our knowledge, this is the first report of a combination of t(15;17) and a segmental duplication of 11q23 in a patient with AML-M2.

Duplication 15q as the sole anomaly in an acute promyelocytic leukemia patient without t(15;17)

We present a unique chromosomal abnormality found in a patient with acute myeloblastic leukemia of French-American-British subtype M3. The patient was referred for an evaluation of a chromosomal anomaly exclusively associated with FAB M3 or acute promyelocytic leukemia: a translocation between chromosomes 15 and 17, t(15;17)(q22;q21.1). Neither t(15;17) nor rearrangement of RARalpha was detected by routine G-banded chromosome as well as fluorescence in situ hybridization analysis using the commercial dual-color PML/RARalpha translocation probe and the RARalpha probe, a break apart rearrangement dual-color probe. Instead of the typical rearrangement between chromosomes 15 and 17, all cells analyzed had a duplication of the segment of chromosome 15 between bands 15q15 and 15q26.

A novel subtelomeric translocation t(5;9) and a deletion of the RB1 gene in a patient with acute myeloid leukemia (AML-M0)

No chromosomal rearrangements have been identified as specifically associated with minimally differentiated acute myeloid leukemia (AML-M0). Several research groups studied the cytogenetic features of AML-M0 and found that as much as 81% of patients with AML-M0 had chromosomal rearrangements; primarily -5/5q- and/or -7/7q- deletions or translocations involving 12p. A patient, who was diagnosed with AML-M0 eighteen months ago, was referred for cytogenetic evaluation for possible AML relapse. A subtle, cryptic t(5;9)(q35.3;q34.3), plus a deletion of the RB1 gene were detected in 18 out of 20 cells analyzed by FISH utilizing the TelVysion assay kit. To rule out the possibility that these chromosomal changes were related to the relapse of AML in this case, we repeated the same FISH test on the specimen at initial diagnosis before any treatment. The same abnormalities were found. To our knowledge, this is the first case reported with subtelomeric t(5;9)(q35.3;q34.3) and the deletion of the RB1 gene in a patient with AML-M0. Whether the t(5;9) combined with the deletion of the RB1 gene plays an important role in the development of AML-M0 warrants further investigation.

Anti-GBM Disease in Pregnancy Acute Renal Failure Resolved After Plasma Exchange, Hemodialysis, and Steroids

Antiglomerular basement membrane (GBM) disease presenting during pregnancy is uncommon. We present a case of a pregnant female who presented with acute renal failure requiring dialysis due to anti-GBM disease. She responded well to plasma exchange, high-dose steroids, and hemodialysis. Cyclophosphamide was discussed but not given at the patient’s request due to concerns for the well-being of the fetus. Unfortunately, she suffered a spontaneous abortion in her eighth week of pregnancy. Subsequently, she had progressive improvement in her renal function and became hemodialysis independent at 2 weeks after diagnosis. Her renal function returned to baseline 3 months after diagnosis. We present this case in detail and review the literature regarding anti-GBM disease in pregnancy.

Anti-GBM of Pregnancy: Acute Renal Failure Resolved after Spontaneous Abortion, Plasma Exchange, Hemodialysis, and Steroids

Antiglomerular basement membrane disease presenting during pregnancy is very uncommon. We present a case of a pregnant female who presented with acute renal failure needing dialysis from Goodpastures disease. She responded very well to just plasma exchange, high dose steroids, and hemodialysis. Cyclophosphamide was never started on this patient. She had a spontaneous abortion in her 8th week of pregnancy and henceforth did very well to regain her renal function. Patient became hemodialysis independent at 2 months and returned to her baseline kidney function at 6 months. We present this remarkable case of recovery from acute renal failure in a patient with anti-GBM disease. We think the flare-up of renal failure was pregnancy related which resolved after spontaneous abortion.

Isolated Acute Thrombocytopenia in a 21-Year-Old Caucasian Male

Medical History: The patient reported no chronic illnesses. He denied any history of blood disorders in his family. He recounted he had not drank alcohol or smoked in the last 5 weeks of basic training. He reported 20 total sexual partners in his lifetime. The patient tested negative for HIV and ANA prior to the current encounter. Current Medications: Tessalon (antitussive), Tylenol. No thrombocytopenia-associated agents were found in the patient’s previous medical history.

Successful autologous stem-cell transplantation after 21 years of cryopreservation.

The authors declare no conflict of interests. Address correspondence to: Henrik H. Kralund, M.D., Department of Dermatology and Allergy Centre, Odense University Hospital, Sdr. Boulevard 29, 5000 Odense C, Denmark. E-mail: Kralund@gmail.com H.H.K. participated in the writing of the manuscript, and performance of the research; S.B.-O. and H.F.L. participated in research design, writing of the manuscript, and performance of the research; and C.B. participated in the writing of the manuscript. Received 17 November 2010. Accepted 6 January 2011. Copyright