Hypercalciuria and renal salt wastage: a new congenital syndrome. Successfùll indomethacine (IDM) therapy

Renal hypomagnesemia, hypercalciuria, nephrocalcinosis

Water and Salt So030 Amousemodelof Saltwasting, Hypercalciuria and Kidney Stones

Introduction and Aims: Calcium nephrolithiasis is a complex disease with multiple pathogenetic mechanisms. The role of salt wasting and the subsequent volume depletion in the pathogenesis of hypercalciuria and kidney stone formation remains speculative. The only known monogenic disorder associated with salt wasting/volume depletion, hypercalciuria and nephrolithiasis/ nephrocalcinosis is Bartte...

Congenital Nephrotic Syndrome: A Cases Report

Congenital nephrotic syndrome (CNS) can be caused by neonatal infections and renal diseases that usually occur in early infancy. The most common CNS is the Finnish type, which is an autosomal recessively inherited disease characterized by intrauterine onset of massive proteinuria. In this study, we presented a preterm neonate confirmed as the first case of CNS in Iran by genetic study, who was ...

A new successful combination therapy with atenolol and prednisolone for Kasabach-Merritt syndrome

Kasabach-merritt syndrome is a rare life-threatening syndrome associated with vascular tumors such as tufted angioma and kaposiform hemangioendothelioma. For this syndrome, there exist a few treatment modalities with variable results. For many years, corticosteroids have been employed in the first-line therapy. Nowadays, on the other hand, β blockers such as propranolol have been used owing to ...

Microcephaly, Deafness, and Renal Dysplasia: A Case of Barakat Syndrome

Background: Barakat syndrome is a rare autosomal dominant disorder characterized by hypoparathyroidism, sensorineural deafness, and renal disease, collectively known as HDR syndrome. This disease is caused by the mutation of GATA3 gene located on chromosome 10p15. GATA3 is involved in the embryonic development of kidneys, inner ears, parathyroid glands, and central nervous systems.Case report: ...