Renal salt-wasting syndrome in children with intracranial disorders.

Hypotonic hyponatremia, a serious and recognized complication of any intracranial disorder, results from extra-cellular fluid volume depletion, inappropriate anti-diuresis or renal salt-wasting. The putative mechanisms by which intracranial disorders might lead to renal salt-wasting are either a disrupted neural input to the kidney or the elaboration of a circulating natriuretic factor. The key to diagnosis of renal salt-wasting lies in the assessment of extra-cellular volume status: the central venous pressure is currently considered the yardstick for measuring fluid volume status in subjects with intracranial disorders and hyponatremia.

The mutation c.1196_1202dup7bp (p.Ser402X) in the SLC12A3 gene clusters in Italian Gitelman syndrome patients and reflects the presence of a common ancestor.

Background: Inactivating mutations in the SLC12A3 gene are the main cause of Gitelman's syndrome (GS), a renal tubular disorder inherited as an autosomal recessive trait. In our cohort of patients, we identified 11 probands from 11 apparently unrelated Italian families that carry the c.1196_1202dup7bp mutation, which appears to be more frequent than other mutations in Italian GS patients.

Early appearance of hypokalemia in Gitelman syndrome.

Inactivating mutations in the SLC12A3 gene that encodes the thiazide-sensitive co-transporter causes Gitelman syndrome. The main features of this syndrome include normal or low blood pressure, hypokalemia, metabolic alkalosis, hypomagnesemia, hypocalciuria, and hyperreninemia. These patients are at low risk for preterm birth and do not present with symptoms before school age.

Cardiac arrhythmias and rhabdomyolysis in Bartter-Gitelman patients.

Recent data demonstrate that patients affected with hypokalemic salt-losing tubulopathies are prone to acute cardiac arrhythmias and rhabdomyolysis. The tendency to these potentially fatal complications is especially high if chronic hypokalemia is severe, in patients with diarrhea, vomiting or a prolonged QT interval on standard electrocardiography, in patients on drug management with compounds prolonging the electrocardiographic QT interval (including antiarrhythmic agents, some antihistamines, macrolides, antifungals, psychotropics, beta2-adrenergic agonists or cisapride), following acute alcohol abuse and during exercise. Cardiac arrhythmias and rhabdomyolysis occur with sufficient frequency in hypokalemic salt-losing tubulopathies to merit wider awareness of their presence and the preparation of specific prevention and management recommendations.

Long-term follow-up of patients with Bartter syndrome type I and II.

Background: Little information is available on a long-term follow-up in Bartter syndrome type I and II.

Methods: Clinical presentation, treatment and long-term follow-up (5.0-21, median 11 years) were evaluated in 15 Italian patients with homozygous (n = 7) or compound heterozygous (n = 8) mutations in the SLC12A1 (n = 10) or KCNJ1 (n = 5) genes.

End-stage renal disease secondary to IgA nephropathy in recessive dystrophic epidermolysis bullosa: a case report.

Epidermolysis bullosa (EB) consists of a group of dominant or recessive autosomal diseases characterised by skin and mucosa fragility. The lesions leave erosions and scars that, in turn, can cause stenosis of tracheal, oesophageal, and genitourinary tract mucosae. The significantly increased survival of EB patients has determined the onset of complications never observed before, including genitourinary disorders such as hydroureteronephrosis, recurrent urinary tract infections, renal amyloidosis, IgA nephropathy and post-infectious glomerulonephritis.