Renal involvement in MELAS syndrome - a series of 5 cases and review of the literature.

Renal dysfunction is increasingly recognized as a potential clinical feature of mitochondrial cytopathies such as mitochondrial encephalomyopathy, lacticacidosis and stroke-like episodes (MELAS) syndrome. Five cases of MELAS syndrome with renal involvement from 4 unrelated families are presented in this case series. Three of the 5 patients had a history of maternally-inherited diabetes and/or deafness.

COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps.

Background: COL4A3, COL4A4, and COL4A5 are the only collagen genes that have been implicated in inherited nephropathies in humans. However, the causative genes for a number of hereditary multicystic kidney diseases, myopathies with cramps, and heritable intracranial aneurysms remain unknown.

Methods: We characterized the renal and extrarenal phenotypes of subjects from three families who had an autosomal dominant hereditary angiopathy with nephropathy, aneurysms, and muscle cramps (HANAC), which we propose is a syndrome.

[Are preoperative examinations useful in the management of patients with renal hyperparathyroidism?].

Aim Of The Study: To evaluate the efficiency of preoperative parathyroid ultrasonography and scintigraphy in the management of renal hyperparathyroidism.

Patients And Methods: The charts of the last consecutive 200 patients who underwent surgery for renal hyperparathyroidism from 1998 to 2003 were retrospectively reviewed to collect data concerning parathyroid gland function, results of preoperative ultrasonography and scintigraphy, as well as modalities and results of surgical exploration.

Results: Ultrasonography and scintigraphy sensibilities were 36.

[Imaging in urinary tract infections in adults].

Uncomplicated infection of the urinary tract is frequent and usually resolves rapidly with treatment and imaging is unnecessary. Progression to complex infection often occurs in patients with predisposing factors. Imaging assists in evaluating the extent of disease, plays a role in directing therapy and guides interventional procedures if necessary.