Hemangioendotelioma hepático difuso de evolución fatal: antes y después del propranolol / Diffuse hepatic hemangiomatosis fatal outcome: before and after propranolol

El hemangioendotelioma hepático difuso neonatal es una entidad que, en los casos sintomáticos progresivos, puede tener un pronóstico infausto pese al tratamiento clásico. Desde hace 2 años se viene utilizando el propranolol con resultados óptimos, aunque no existen comunicaciones en este sentido a nivel nacional (AU)

The diffuse neonatal hemangiomatosis is an entity that, in the symptomatic and progressive cases, can have a bad prognostic despite receiving the classic treatment. Since two years ago, propanolol is used with successful results, but there are not many articles in that sense at national level (AU)

Nephrotic syndrome and AA amyloidosis revealing adult-onset cryopyrin-associated periodic syndrome.

Cryopyrin-associated periodic syndrome (CAPS) is due to gain-of-function mutations in the cryopyrin gene, which determines an overactive inflammatory response. AA amyloidosis is a complication of this syndrome. A 53-year-old man was referred to us because of lower limb edema. Past history: at the age of 20, he complained of arthralgia/arthritis and bilateral hypoacusis. At the age of 35, he presented posterior uveitis, several episodes of conjunctivitis, and progressive loss of visual acuity. Laboratory tests disclosed nephrotic syndrome, and renal biopsy showed AA amyloidosis. He was given anakinra with improvement of arthritis. A genetic study revealed the p.D303N mutation in the cryopyrin gene, and he was diagnosed as having AA amyloidosis due to CAPS. Twenty-one months after starting anakinra, the arthritis has disappeared, although nephrotic-range proteinuria persisted. It is important to be aware of cryopyrin-associated periodic syndrome because it can cause irreversible complications, and there is effective therapy.

Autosomal dominant polycystic kidney disease with congenital absence of contralateral kidney.

Autosomal dominant polycystic kidney disease is the most frequent hereditary kidney disorder, accounting for 8-10% of the cases of end-stage renal disease. It is characterized by bilateral multiple renal cysts, nevertheless, asymmetric enlargement of the kidneys is frequently observed, and this can lead to diagnostic confusion. We report the rare occurrence of autosomal dominant polycystic disease confined to a right kidney and congenital absence of the contralateral one. Unexpected early onset of terminal renal failure in this hypertensive 23-year-old male is discussed with the review of the literature.

Recurrent pericardial effusion as initial manifestation of primary diffuse pericardial malignant mesothelioma

The case of a 61-year-old woman who presented a recurrent symptomatic pericardial effusion and a malignant cardiac tamponade six months prior to the detection of a mediastinal anterior mass is described. Diffuse malignant pericardial mesothelioma was diagnosed after mediastinal mass biopsy. The patient underwent further oncological evaluation followed by chemotherapy (AU)

Evaluación de la posición supino oblicua en la biopsia renal percutánea / Supine oblique position in renal biopsy

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