Jorge E. Maldonado

Fanconi syndrome in adults: A manifestation of a latent form of myeloma

From a review of 17 cases of Fanconi syndrome with Bence Jones proteinuria and myeloma or amyloidosis, including three new cases reported here in detail, there emerges a well defined set of characteristics. In most cases, the diagnosis of Fanconi syndrome preceded the development of myeloma or amyloidosis. Myeloma preceding the development of Fanconi syndrome has not been reported. All the patients had Bence Jones proteinuria, but in some it could be detected only by electrophoresis or immunoelectrophoresis, In the seven cases in which the Bence Jones protein was typed, it was of kappa type. There were no serum protein monoclonal abnormalities. In the bone marrow and renal samples of half of the patients, crystalline cytoplasmic inclusion bodies were present in lymphoplasmacytic elements and renal tubular cells. It is proposed that patients with Fanconi syndrome and Bence Jones proteinuria have a distinct type of plasma cell disorder or variant of the monoclonal gammopathies, characterized by a slow progression of the tumor and by an early phase dominated by the metabolic complications of the renal proximal tubular dysfunction. Adult patients with Fanconi syndrome should be carefully investigated for the presence of Bence Jones protein and a plasmacytic dyscrasia should be excluded.

Renal arteriovenous fistula: A reversible cause of hypertension and heart failure

Abstract A case of renal arteriovenous fistula is presented in which radioisotope renography and differential studies of renal function strongly suggested the presence of ipsilateral renal ischemia, subsequently confirmed. Another case, due to hypernephroma, is described in which aorticorenal arteriography revealed vascular lakes within the tumor, together with marked extrarenal venous dilation. Fifty-three previously reported cases of renal arteriovenous fistula are reviewed in detail, with special attention to the relationship of diastolic hypertension to the renal and vascular pathology.

Chronic idiopathic intestinal pseudo-obstruction

The syndrome of chronic idiopathic intestinal pseudo-obstruction is defined and differentiated from other clinically similar states. Five carefully documented cases are reported and compared with five previously recorded cases in which the material presented permitted adequate analysis. Our patients had repeated bouts of intestinal pseudo-obstruction for which no organic cause or disease could be found. The obstruction was accompanied by diarrhea (at times steatorrheal), weight loss and in some instances progressive deterioration and death from malnutrition. Some patients had family members who apparently suffered or had died from a similar type of illness. Roentgenographic and motility studies showed delayed transit, hypomotility and gross distention of the small and occasionally the large intestine. Sweating disturbances and hypothermia were also features in some patients. Essentially normal gastrointestinal histologic appearance was found in all instances and permitted the differentiation of idiopathic intestinal pseudo-obstruction as an entity distinct from scleroderma. The motility disturbance of the bowel and the questionable response to cholinergic drugs suggest a functional failure of the myenteric plexus. No form of treatment was found consistently effective in controlling the manifestations of this disease, although broad-spectrum antibiotics were transiently helpful in two patients. Avoidance of unnecessary surgical procedures, once the diagnosis has been established, is important.

Idiopathic bence jones proteinuria—A distinct entity?☆

Abstract Bence Jones proteinuria has been a recognized part of multiple myeloma, macroglobulinemia of Waldenstrom, primary amyloidosis and occasionally Iymphoma. Two patients who have excreted more than 1 g of Bence Jones protein daily for more than 7 years without evidence of the development of myeloma or other malignant disease have been studied. These patients also had a monoclonal protein in the serum which remained unchanged for the same period. Although the possibility that myeloma may develop in the future cannot be excluded, the disease is not yet manifest. Thus, in view of these observations, we have concluded that appreciable Bence Jones proteinuria may not always be an ominous finding.

Familial myeloma: Report of eight families and a study of serum proteins in their relatives☆

Abstract During a 6 year period, eight instances of familial occurrence of myeloma involving siblings (16 cases of myeloma and 3 of probable benign monoclonal gammopathy) were encountered at the Mayo Clinic. No other monoclonal serum protein abnormalities were found in 70 relatives studied. In view of the infrequency of myeloma, the high familial occurrence of this disease suggests the possibility of genetic factors in its etiology. It is most important that a complete family history be obtained from patients with myeloma.

Renal arteriovenous fistula.

In a significant number of cases, renal arteriovenous fistula with ipsilateral functioning kidney results in a characteristic syndrome that includes the association of high-output cardiac failure, diastolic hypertension, and the presence of a continuous bruit within the abdomen. Proper diagnosis of a renovascular fistula might lead to correction of hypertension and of congestive heart failure and perhaps to early removal of a malignant tumor. Treatment of the fistula is surgical in most instances.

Swiss-Cheese Platelets

Excerpt To the editor: Two reports (1, 2) have recently appeared in theAnnals of Internal Medicineconcerning platelets with a widely dilated open canalicular system and the ultrastructural appearan...

Vasculitis urticarial hipocomplementémica: aclaración histórica

Resumen El sindrome de vasculitis urticarial hipocomplementemica ha recibido enorme interes en la literatura medica, a partir de la publicacion original en 1973, en Mayo Clinic Proceedings. El caso indice fue identificado en 1968, como entidad clinica distintiva, por uno de los coautores de la primera publicacion y de la revision actual (JEM), que cierra un ciclo de mas de 45 anos. Las caracteristicas clinicas diferenciales del sindrome vasculitis urticarial hipocomplementemica determinaron que el Consenso 2012 sobre Nomenclatura de las Vasculitis de la American Association of Rheumatology le asignara un lugar propio dentro de las enfermedades vasculares inflamatorias. En los ultimos anos y, sobre todo, en los ultimos meses, se ha reconocido el sindrome de vasculitis urticarial hipocomplementemica como una forma monogenica de lupus eritematoso, lo cual completa la secuencia historica de la enfermedad y la coloca dentro del espectro de trastornos del complemento. El enfasis de la publicacion esta centrado en los aspectos historicos iniciales del proceso, que tienen el singular merito de ser relatados por el principal autor y testigo, y que no habian sido publicados hasta ahora, aunque si conocidos de manera personal o privada por reconocidos reumatologos e inmunologos. La revision historica de la evolucion del sindrome se ha fundamentado en la revision de la literatura y en la concatenacion de las observaciones ulteriores hasta finales de 2013, cuando se reconocio como una entidad especifica y como una forma monogenica del lupus eritematoso.

Intestinal Pseudo-Obstruction.

Intestinal pseudo-obstruction is a condition characterized by impairment of the muscle contractions that move food through the digestive tract. It can occur at any time of life, and its symptoms range from mild to severe. The condition may arise from abnormalities of the gastrointestinal muscles themselves (myogenic) or from problems with the nerves that control the muscle contractions (neurogenic).