Three Cases of Secondary Hemophagocytic Lymphohistiocytosis Associated with Systemic Erythematosus Lupus

Hemophagocytic lymphohistiocytosis (HLH) is a rare disorder characterized by fever, pancytopenia, hyperferritinemia, and phagocytosis of hematopoietic cells in bone marrow, liver, or lymph nodes. HLH can occur during the course of systemic lupus erythematosus (SLE), but can also be a presenting manifestation. Because development of pancytopenia occurs in less than 10 percent of SLE cases, investigation for HLH is necessary when otherwise unexplained pancytopenia persists despite adequate treatment. We experienced three cases of secondary HLH associated with SLE. Among the three patients, two patients developed HLH during the clinical course of SLE. The other patient who presented with pancytopenia was first diagnosed with HLH, and later with SLE. In her case, HLH turned out to be a presenting manifestation of SLE. We report on three successfully treated cases, and discuss the prevalence, characteristics, treatments, and prognosis of secondary HLH associated with SLE.

A Case of Multiple Myeloma Presenting Acute Renal Failure in a Patient with Rheumatoid Arthritis

It is known that rheumatoid arthritis (RA) patients show increased incidence of multiple myeloma (MM), despite its rarity. Only one case of MM with seronegative RA was reported in Korea, thus far. We report a case of MM with seropositive RA. The patient was a 66 year old female who had been diagnosed with seropositive RA 4 years ago. Over the last 1 month, the patient experienced general weakness and weight loss of 10 kg. It was found that her serum creatinine had increased and her urine analysis showed proteinuria. To evaluate renal failure and proteinuria, renal biopsy, bone marrow biopsy and electrophoresis were carried out. A diagnosis of myeloma cast nephropathy was made. We report this rare case of MM represented as acute renal failure during the treatment for RA, and include a review of the literature.

A Case of Sarcoidosis Associated with Renal Failure in a Kidney Transplant Patient / 대한내과학회지

Sarcoidosis, systemic inflammatory disease characterized by non-caseating granulomas, is rarely associated with renal failure in a kidney transplant. We report a 51-year-old woman with a kidney transplant who was diagnosed to have renal sarcoidosis. After 7 years of renal transplantation, the patient presented with relatively rapid deterioration of renal function and, subsequently, she underwent kidney transplant biopsy. Renal biopsy revealed interstitial nephritis with non-caseating granulomas compatible with granulomatous interstitial nephritis (GIN). She was also found to have granulomatous lymphadenitis and skin lesions. Diagnosis of sarcoidosis was made based on histopathologic findings, the high serum angiotensin converting enzyme level and exclusions of other causes of GIN including tuberculosis, ANCA associated glomerulonephritis and tubulointerstitial nephritis and uveitis syndrome. The patient was started on oral prednisolone, and subsequently her renal function improved.

Initial Hematochezia and Kidney Involvement are Important Prognostic Factors of Adult Onset Henoch-Schonlein Purpura in Korea

OBJECTIVE: Henoch-Schonlein purpura (HSP) is a systemic vasculitis, characterized by small-vessel leukocytoclastic vasculitis with the deposition of immune complexes containing IgA. It is the most common acute vasculitic disorder affecting children but is relatively uncommon in adults. We investigated the clinical features and factors affecting the prognosis of adult HSP in Korea. METHODS: From 1996 to 2011 seventy patients over 15 years of age with HSP were retrospectively analyzed. RESULTS: Thirty eight patients (54.3%) were female and the age at disease onset ranged from 15 to 75 years (35.0+/-15.8 years). Purpuric skin rash was observed in all patients and arthralgia was present in 34 patients (48.6%). GI symptoms and kidney involvements were observed in 28 patients (40.0%) and 34 patients (48.6%), respectively. Complete remission was achieved in 46 patients (65.7%). The remission group showed a lower incidence of hematochezia (p=0.044), hematuria (p=0.008), and proteinuria (p=0.011) at diagnosis than the no remission group. About 10% of adult HSP patient progressed to chronic kidney disease (CKD), which showed higher a incidence of nephrotic range proteinuria. Only nephrotic range proteinuria at diagnosis was a significant risk factor for CKD (OR=16.7, p=0.008, 95% CI=2.1~133.1). CONCLUSION: Hematochezia, hematuria and proteinuria at the diagnosis of HSP are important prognostic factors in predicting remission. In addition, HSP patients with nephrotic range proteinuria at diagnosis have an increased risk of renal failure.

Association between apolipoprotein E genotype, chronic liver disease, and hepatitis B virus

BACKGROUND/AIMS: Apolipoprotein E (ApoE) plays an important role in regulating lipid and lipoprotein metabolism, and ApoE genotypes are known to affect plasma lipoprotein concentrations. We investigated whether ApoE genotype determines the disease outcome in hepatitis B virus (HBV)-infected individuals, and verified the association between ApoE genotype and the occurrence of hepatocellular carcinoma (HCC) in patients with chronic liver diseases of various etiologies. METHODS: This hospital-based, case-controlled study enrolled 156 subjects (47 healthy controls, 50 HBV-related liver cirrhosis patients, and 59 HCC patients). ApoE genotypes were determined using PCR-based ApoE genotyping kits. The biological significance of ApoE genotype was verified by measuring serum ApoE levels using an ELISA kits. RESULTS: The epsilon3 allele was the most common allele, with allele frequencies among the entire cohort of 5.8%, 84.3%, and 9.9% for the epsilon2, epsilon3, and epsilon4 alleles, respectively. Significantly more of those patients carrying the epsilon3/3 genotype had developed liver cirrhosis compared to the control subjects. Being an ApoE4 carrier was associated with a lower probability of developing liver cirrhosis. The allele frequencies and genotype distribution of ApoE did not differ significantly between the liver cirrhosis and HCC patients. The serum level of ApoE was significantly higher in patients with liver cirrhosis than in the healthy controls, but did not differ significantly with the ApoE genotype. CONCLUSIONS: The ApoE epsilon3/3 genotype frequency was higher in patients with HBV-associated liver cirrhosis than in the controls.

A Case of CATCH22 Syndrome with Normal Parathyroid Function

CATCH 22 is a medical acronym for cardiac defects, abnormal faces, thymic hypoplasia, cleft palate, and hypocalcemia, and a variable deletion on chromosome 22. It includes DiGeorge syndrome, conotruncal anomaly face syndrome, and velo-cardio-facial syndrome. It has a prevalence estimated at 1:3,000-1:6,000. Most deletions occur at de novo, but autosomal dominant inheritance is observed in 6-10% of cases. Hormonal disorders are common in patients with CATCH22 syndrome. While hypoparathyroidism was the predominant endocrine disturbance that has been documented in the DiGeorge syndrome, other hormonal defects, such as growth hormone deficiency, hypothyroidism, and hyperthyroidism have been occurred in patients with CATCH22 syndrome. The spectrum of parathyroid gland dysfunction in this syndrome ranges from severe neonatal hypocalcemia to normal parathyroid function. Most patients are usually diagnosed in young age, but a few patients with mild abnormality are presented later in life. We report a case of CATCH22 syndrome with normal parathyroid hormone and calcium level in an adult. The diagnosis of CATCH22 syndrome was confirmed by fluorescence in situ hybridization analysis.