[Kidney insufficiency and persistent hypotension following compromise of the renin-angiotensin system in a fetus and a young infant].

A newborn girl had chronic renal failure following prenatal exposure to an angiotensin-converting enzyme (ACE) inhibitor, and a young infant with congenital nephrotic syndrome, showed persistent hypotension with neurological complications following bilateral nephrectomy at the age of 4 months. Both died. The renin-angiotensin system (RAS) is well-known for its regulatory function with respect to blood pressure, renal haemodynamics, fluid balance and electrolyte balance.

Persistent arterial hypotension after bilateral nephrectomy in a 4-month-old infant.

A patient with congenital nephrotic syndrome underwent bilateral nephrectomy at the age of 4 months. She showed persistent hypotension from the fourth postoperative day until death at the age of nearly 5 months. No cause for the hypotension could be found.

Clinical presentation and follow-up of 30 patients with congenital nephrogenic diabetes insipidus.

Congenital nephrogenic diabetes insipidus is characterized by insensitivity of the distal nephron to arginine vasopressin. Clinical knowledge of this disease is based largely on case reports. For this study, data were collected on clinical presentation and during long-term follow-up of 30 male patients with congenital nephrogenic diabetes insipidus.

[Congenital nephrogenic diabetes insipidus: a difficult diagnosis?].

In five patients (a boy aged 10 years, a boy aged 3 months, his brother aged 1 week, the brother of the mother of the last-mentioned two boys who had died at the age of one, and a girl of kindergarten age) congenital nephrogenic diabetes insipidus was diagnosed. This rare syndrome (prevalence 1:500,000) is caused by renal insensitivity to the antidiuretic hormone arginine vasopressin. In infancy the symptoms of this disorder are aspecific, and the main symptoms of the disease, polyuria and polydipsia, often remain unnoticed at this young age.

New mutations in the AQP2 gene in nephrogenic diabetes insipidus resulting in functional but misrouted water channels.

Nephrogenic diabetes insipidus (NDI) is characterized by the inability of the kidney to concentrate urine in response to vasopressin. The autosomal recessive form of NDI is caused by mutations in the AQP2 gene, encoding the vasopressin-regulated water channel of the kidney collecting duct. This report presents three new mutations in the AQP2 gene that cause NDI, resulting in A147T-, T126M-, or N68S-substituted AQP2 proteins.