Henoch-Schönlein purpura nephritis associated with monoclonal gammopathy of renal significance: a case report

Monoclonal gammopathy of renal significance (MGRS) can present with different morphologic features and lead to kidney failure. The Henoch-Schönlein purpura nephritis (HSPN) that cannot be relieved by treatment with glucocorticoid and immunosuppressive agents suggests the presence of monoclonal gammopathy in adult patients. The present study reports on a single case of HSPN associated with IgA-κMGRS. The patient who suffered from recurrent skin purpura for 6 months and nephrotic syndrome for 2 months was admitted to our hospital. Bone marrow biopsy showed monoclonal gammopathy of undetermined significance. Kidney biopsy indicated a Henoch-Schönlein purpura nephritis (HSPN, ISKDC classified as type III) with positive staining with κ-light chain in the glomeruli and renal tubular epithelial cells. Furthermore, skin biopsy showed leukocytoclastic vasculitis and negative staining for Congo red and light chain. Given both the renal and cutaneous involvement, the patient was considered to have HSPN associated with IgA-κMGRS. The patient experienced an exacerbation in his purpura-like lesions and clinical status after treatment with glucocorticoid and immunosuppressive agents. Consequently, the patient was put on a regimen that included dexamethasone (20 mg on the 1st, 4th, 8th, and 11th days of each month, iv) and bortezomib (2.4 mg on the 1st, 4th, 8th, and 11th days of each month, iv). Eight weeks after treatment, he had complete resolution of his cutaneous purpura and his biochemical parameters improved. The latent presence of MGRS in cases of HSPN should be considered in adult patients. Increased cognizance and correct treatment options could improve patient outcomes.

Leucemia de células plasmáticas primaria: experiencia en un hospital público chileno / Primary plasma cell leukemia: report of five cases

Background: Primary plasma cell leukemia (pPCL) is uncommon, aggressive and has a different biology than multiple myeloma (MM). Aim: To report the features of patients with pPCL. Material and Methods: Review of databases of the Hematology Department and the Hematology laboratory. Results: Of 178 patients with monoclonal gammopathies, five (2.8%) patients aged 33 to 64 years (three females) had a pPCL. The mean hemoglobin was 7.3 g/dL, the mean white blood cell count was 52,500/mm3, with 58% plasma cells, and the mean platelet count was 83,600/mm3. The mean bone marrow infiltration was 89%, LDH was 2,003 IU/L, serum calcium was 13 mg/dL, and creatinine 1.5 mg/dL. Two patients had bone lesions. Three were IgG, one IgA lambda and one lambda light chain. CD20 was positive in one, CD56 was negative in all and CD117 was negative in 3 cases. By conventional cytogenetic analysis, two had a complex karyotype. By Fluorescence in situ Hybridization, one was positive for TP53 and another for t (11; 14). One patient did not receive any treatment, three patients received VTD PACE and one CTD. None underwent transplant. Three patients are alive. The mean survival was 14 months. Conclusions: These patients with pPCL were younger and had a more aggressive clinical outcome than in multiple myeloma.

Enfermedad renal por depósito idiopático de cadenas livianas: Caso clínico / Kidney involvement in idiopathic light chain disease: Report of one case

Idiopathic Light Chain disease (ILCD) is a systemic disease characterized by a deposit in different organs of light chain monoclonal immunoglobulins, produced by an abnormal clone ofB cells. It is usually found in the course ofa plasma cell dyscrasia and in other lymphoproliferative alterations; however it may occur in absence of any hematologic disease and is denominated as idiopathic. We report a 51-year-old mole admitted to the hospital due to anasarca. Laboratory evaluation showed a serum creatinine of 1.4 mg/dl, a serum albumin of1.6 g/dl, a serum cholesterol of 687 mg/dl and a proteinuria of 5.3 g/day Light chains with a predominance of a monoclonal component were identified in urinary proteins by electrophoresis and kappa chains were identified by immunofixation. A renal biopsy showed a diffuse nodular glomerulopathy with a 35% tubular atrophy and interstitial sclerosis. Electrón microscopy confirmed light chain deposition. The bone marrow biopsy showed a myeloid hyperplasia. Thepatient was initially treated with methylprednisolone and plasmapheresis with a reduction in serum creatinine and disappearance of urinary kappa component. Albuminuriapersisted and a malnutrition-inflammatory complex syndrome was diagnosed. Hemodialysis with ultrafiltration was started along with cyclophosphamide. Thepatient receivedhemodialysisforsixmonths and continued with methylprednisolone.

Amiloidosis primaria sistémica: reporte de un caso y revisión de la literatura / Primary systemic amyloidosis: a case report and literature review

La amiloidosis primaria es una gammapatía monoclonal caracterizada por la formación y depósito de fibrillas insolubles de amiloide en los espacios extracelulares de diversos órganos. El plegamiento y ensamblaje anormal de esta proteína, afecta predominantemente hígado, riñon, bazo y nervios periféricos. Estos pacientes presentan una población monoclonal de células plasmáticas en médula ósea que produce constantemente pequeños fragmentos de cadenas ligeras lambda, kappa, o inmunoglobulinas, que son procesadas de manera anómala. Su infrecuencia y múltiples manifestaciones hacen del diagnóstico un reto para el clínico, quien ante su sospecha, deberá diferenciarla de otras discrasias de células plasmáticas, por lo cual el examen físico minucioso e incisivo juega un papel fundamental en el proceso diagnóstico. En este caso presentamos a un paciente masculino de 54 años cuyo cuadro clínico es caracterizado por edema y máculas hiperpigmentadas circunscritas y descamativas en cabeza y miembros superiores, y laboratorios que revelan anemia, trombocitopenia, hipoalbuminemia, hiperglobulinemia y proteinuria. Ante la sospecha clínica de amiloidosis primaria sistémica se realiza biopsia de grasa periumbilical, donde se visualizan depósitos amiloides en tinción con rojo Congo. Posterior a tratamiento con prednisona, dexametasona y talidomida presenta respuesta hematológica por lo que recibe alta médica al alcanzar mejoría clínica satisfactoria. La ausencia de reporte de casos y revisiones de literatura en nuestra población obliga a presentar este reporte y revisión como referencia diagnóstica y terapéutica.

Primary systemic amyloidosis is a monoclonal gammopathy characterized by the synthesis and extracellular deposition of an insoluble fibrillar protein, the amyloid protein, in a variety of tissues and organs. Its three dimensional beta pleated sheet configuration and abnormal assembly mostly affects liver, kidneys, spleen and peripheral nerves. Patients show free light lambda, kappa and immnoglobulin chains that are abnormally produced by monoclonal plasmatic cell population. Its infrequency and multiple manifestations make its diagnosis a challenge for the physician, who will need to be able to differentiate it from other plasma cell dyscrasias, thus, sharp physical examination plays a key role in diagnostic process. In this case we present a 54 years old male patient consulting for edema and upper limbs descamative and well defined hyperpigmented skin lesions, revaaling anemia, thrombocytopenia, hypoalbuminemia, hyperglobulinemia and proteinuria by laboratory test. In clinical suspect of primary systemic amyloidosis, periumbilical fat biopsy was performed detecting, by Congo red staining, amyloid deposits. Then, after prednisone, dexametasone and thalidomide chemotherapy was stablished, hematologic response and medical discharge was successfully archived. Because no autochthonous case reports have been published, we feel the need to present this one, and its revision, as a diagnostic and therapeutic primary systemic amyloidosis guideline.

A Case of IgA kappa Light Chain Deposition Disease and Combined Adult Fanconi Syndrome with Auer rod-like Intracytoplasmic Inclusions in Plasma Cells and Proximal Renal Tubular Cells / 대한진단검사의학회지

We report a case of IgA kappa light chain deposition disease and combined adult Fanconi syndrome with Auer rod-like intracytoplasmic inclusions in plasma cells and proximal renal tubular cells in a 54-yr-old female. Cytochemical stainings revealed a strong acid phosphatase activity of the inclusions and weak periodic acid-Schiff positivity, whereas the reactions for peroxidase and alpha-naphthyl acetate esterase were negative. An immunostaining verified IgA-kappa inside the plasma cells. Kidney biopsy revealed Bence Jones cast nephropathy with kappa light chain positivity, and Congo red staining was negative. Electron microscopy showed needle-shaped crystals located in tubular epithelial cells.

Rearreglos de genes de cadenas pesadas de las inmunoglobulinas en las gammapatias monoclonales / Immunoglobulin heavy chain gene rearrangements in the monoclonal gammopathies

Las neoplasias de células plasmáticas resultan de la expansión de un clon de células B que secreta inmunoglobulinas, conocido como componente monoclonal o componente M. Las neoplasias malignas incluyen al mieloma múltiple y la macroglobulinemia de Waldenström, y la condición premaligna comprende las gammapatías monoclonales de significado incierto (MGUS). El MGUS presenta un componente monoclonal sin evidencia de mieloma múltiple, macroglobulinemia de Waldenström, amiloidosis primaria u otros desórdenes. El diagnóstico se basa en la combinación de características patológicas, radiológicas y clínicas. Aproximadamente el 25% de las gammapatías monoclonales de significado incierto desarrollarán mieloma múltiple, amiloidosis sistémica, macroglobulinemia o enfermedades linfoproliferativas malignas, indicando que sería una condición premielomatosa. El objetivo del presente trabajo es establecer la utilidad clínica de la inmunofenotipificación por citometría de flujo (CF) y la detección de clonalidad por biología molecular. Se estudiaron 32 pacientes, siete con diagnóstico de mieloma múltiple y veinticinco con gammapatía monoclonal em estudio, los cuales fueron divididos en cuatro grupos basados en los datos clínicos y los resultados de CF. Em el grupo de pacientes con CF no diagnóstica, se realizó la detección de los rearreglos de los genes de las cadenas pesadas de las inmunoglobulinas mediante reacción en cadena de la polimerasa (PCR), detectándose monoclonalidad en el 59% de los casos. El estudio de los rearreglos de los genes de las cadenas pesadas de las IgH mediante PCR incrementa la sensibilidad de detección de monoclonalidad.

Discrasia de células plasmáticas: presentación de un caso con características clínicas e inmunológicas inusuales / Plasmatic cell dyscrasia: report of a case with clinical and unnusual immunological characteristics

Las discrasias de células plasmáticas, o ganmapatías monoclonales, engloban un grupo de entidades con características clínicas, inmunológicas y morfológicas que permiten la individualización de cada una de ellas. Sin embargo, en ciertas oportunidades, como en el caso clínico que presentamos a continuación, no es posible establecer el diagnóstico preciso de mieloma múltiple, macroglobulinemia de Waldestrom, enfermedad de cadenas pesadas o amiloidosis primaria, mas aun cuando los hallazgos inmunoelectroforéticos corresponden a una ganmapatía biclonal