ABSTRACT
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC), an autosomal recessive renal tubular disorder is characterized by the impaired tubular reabsorption of magnesium and calcium in the thick ascending limb of the loop of Henle. This disease is caused by mutations in the claudin-16 gene (CLDN16), which encodes the tight junction protein, claudin-16. Claudin-16 belongs to the claudin family and regulates the paracellular transport of magnesium and calcium. Here, we report on three Turkish siblings with typical clinical features of FHHNC in association with the homozygous mutation Leu151Phe.
Subject(s)
Hypercalciuria/genetics , Magnesium/metabolism , Membrane Proteins/genetics , Mutation , Nephrocalcinosis/genetics , Renal Tubular Transport, Inborn Errors/genetics , Child , Citric Acid/therapeutic use , Claudins , Homozygote , Humans , Hypercalciuria/drug therapy , Hypercalciuria/metabolism , Hypercalciuria/pathology , Infant , Male , Nephrocalcinosis/drug therapy , Nephrocalcinosis/metabolism , Nephrocalcinosis/pathology , Organometallic Compounds/therapeutic use , Renal Tubular Transport, Inborn Errors/drug therapy , Renal Tubular Transport, Inborn Errors/metabolism , Renal Tubular Transport, Inborn Errors/pathology , Siblings , Sodium Chloride Symporter Inhibitors/therapeutic use , Treatment Outcome , TurkeyABSTRACT
We aimed to evaluate the patients who were diagnosed as Henoch Schonlein purpura (HSP) for disease characteristics and prognosis of those with joint, gastrointestinal (GI), and renal involvement. Two hundred and fifty-four children who were followed up with the diagnosis of HSP in the Pediatric Nephrology Clinics of Meram Medical Faculty of Selcuk University and Medical Faculty of Gazi University between January 2003 and June 2006 were retrospectively evaluated. The clinical follow-up and treatment regimens of patients in whom renal biopsy was performed were evaluated in detail. The study group consisted of 254 children, 147 boys (57.8%) and 107 girls (42.2%), and the ratio of boys to girls was 1.37. The percentages of skin, joint, GI, and renal manifestations were 100%, 66%, 56%, and 30%, respectively. Eight patients had intussusception. Five of them recovered with steroid treatment only while three patients were operated on. Sixty-four patients (44%) with GI involvement had severe disease and were successfully treated with steroids. Renal biopsy was performed in 26 patients. Among those 26 patients, two of them recovered spontaneously within 3 and 4 weeks. Ten patients improved with only steroid treatment while 12 patients recovered with steroid and cyclophosphamide treatment. Two patients were resistant to steroid and cyclophosphamide treatment and were treated with cyclosporine A. We believe that steroid therapy given to the HSP patients with GI manifestations might be helpful to prevent probable complications such as GI bleeding and intussusception. In addition, combined therapy with steroid and cyclophosphamide can usually be an appropriate treatment for patients with nephrotic proteinuria.
Subject(s)
IgA Vasculitis , Child , Child, Preschool , Cyclosporine/therapeutic use , Female , Follow-Up Studies , Gastrointestinal Diseases/complications , Humans , IgA Vasculitis/complications , IgA Vasculitis/therapy , Intussusception/complications , Joint Diseases/complications , Kidney Diseases/complications , MaleSubject(s)
Adrenergic beta-Antagonists/therapeutic use , Amitriptyline/toxicity , Antidepressive Agents, Tricyclic/toxicity , Metoprolol/therapeutic use , Tachycardia, Ventricular/diagnosis , Adolescent , Adrenergic beta-Antagonists/administration & dosage , Coma/etiology , Diagnosis, Differential , Electrocardiography , Emergency Treatment , Female , Humans , Infusions, Intravenous , Metoprolol/administration & dosage , Suicide, Attempted , Tachycardia, Ventricular/chemically induced , Tachycardia, Ventricular/drug therapyABSTRACT
Reversible posterior leukoencephalopathy syndrome is an increasingly recognized disorder with typical radiologic findings of bilateral gray- and white-matter abnormalities in the posterior regions of the cerebral hemispheres. The majority of patients with reversible posterior leukoencephalopathy syndrome are adults, and it is rare in children. Previously reported associations of reversible posterior leukoencephalopathy syndrome include hypertension, vasculitis, nephrotic syndrome, severe hypercalcemia, hemolytic uremic syndrome, eclampsia, renal failure, and use of immunosuppressive drugs. Adie's pupil is described as the presence of a large unilateral or bilateral tonic pupil related to virus infections or trauma. In this article, we describe a case of reversible posterior leukoencephalopathy and Adie's pupil association that occurred after measles vaccination. To our knowledge, this association has not been reported.
