[Clinical features and ultrastructure of primary ciliary dyskinesia and Young syndrome]. / Clínica y ultraestructura de la discinesia ciliar primaria y el síndrome de Young.

A study was conducted of the clinical manifestations and ultrastructure in a series of seven patients with repeated pulmonary infections and infertility (3 cases with primary ciliary dyskinesia [PCD] and 4 with the young syndrome [YS]). Clinical and functional respiratory changes were more marked among cases of PCD. The seminogram showed azoospermia in cases with YS and hypospermia with marked hypomotility in cases with PCD. A nasal mucosa biopsy specimen was obtained from all patients to perform a transmission electron microscopy (EM) investigation. Patients with YS did not have pathognomonic ultrastructural changes, whereas patients with PCD had a large number of ciliary abnormalities (23.3% +/- 1.5%); 14% +/- 7% of them corresponded to nonspecific ciliary changes and the remaining abnormalities to congenital ciliary changes (ciliary disorientation in three cases, defective radial spokes in one case and microtubule transposition in one case). EM is a useful technique which is recommended for the differential diagnosis in this group of patients.

Pulmonary capillary hemangiomatosis: report of a case and review of the literature.

We describe a case of pulmonary capillary hemangiomatosis in a 60-year-old woman with a 1-year history of progressive exertional dyspnea. Four years before admission a diagnosis of breast cancer was made, and she underwent mastectomy plus radiation therapy and treatment with oral antiestrogens. The chest X-ray showed bilateral interstitial infiltrates. Pulmonary function studies revealed a severe restrictive pattern. Abundant red blood cells were found in the bronchoalveolar lavage fluid. On the basis of open lung biopsy, interstitial fibrosis was diagnosed. Cardiac catheterization revealed pulmonary hypertension. Steroids were prescribed, but the patient's condition continued to deteriorate and she died approximately 3 years after presentation. The identification of proliferating and invasive capillaries, which are unique to pulmonary capillary hemangiomatosis, led to the correct diagnosis at autopsy.

Xanthogranulomatous pyelonephritis and systemic amyloidosis: report of 2 new cases and the natural history of this association.

The association of xanthogranulomatous pyelonephritis and systemic amyloidosis is extremely rare. To our knowledge, despite innumerable cases of xanthogranulomatous pyelonephritis reported in the literature, this association has been described on only 2 occasions. Clinical, analytical and radiographic findings can be highly suggestive of the diagnosis. We report on 2 patients with xanthogranulomatous pyelonephritis, systemic amyloidosis and the nephrotic syndrome: 1 died 4 1/2 years after diagnosis and 1 was stable with good general health 3 years after diagnosis. The clinical aspects as well as the treatment given to both patients are discussed. We describe the natural history of an association that due to its rarity is not currently well known.

[Athero-embolic nephropathy. Report of 2 cases]. / Nefropatía ateroembólica. Aportación de dos casos.

Two cases of athero-embolic nephropathy unrelated with known precipitating factors such as aortic surgery, angiography, anticoagulation or pharmacological fibrinolysis are reported. In one, the histological study additionally disclosed endo-extracapillary proliferative glomerulonephritis. Hypocomplementemia or hypereosinophilia, which some authors consider very characteristic findings, could not be demonstrated in any of the two patients. The difficulties in the diagnosis of athero-embolic nephropathy and the possible indications of renal biopsy are discussed. Emphasis is made on prevention as the best approach to management, no specific treatment being available.

CT findings in circumscribed upper abdominal idiopathic retroperitoneal fibrosis.

Idiopathic retroperitoneal fibrosis (IRF) is a rare condition of unknown etiology. An unusual case of IRF exclusively located at the peripancreatic area without extension below the lower renal poles is reported.