Bartter syndrome can manifest in three different forms and is rarely concomitant with glomerular nephropathies. However, this association is more frequently observed in children. We report the case of a 50-year-old woman with Gitelman syndrome for the past 30 years who also had a nephrotic syndrome of recent appearance. Her renal biopsy revealed hyperplasia of the juxtaglomerular apparatus and ...

Renal tubular acidosis (RTA) may develop in a large population of patients with Sjogren's syndrome (SS), but most of the subjects are asymptomatic. Here, we report a patient with known rheumatoid arthritis and symptoms of xerostomia, xerophthalmia and periodic paralysis. SS should be considered as a cause of RTA. The treatment of the underlying disorder may ameliorate the symptoms.

Hypokalemia is among the most common electrolyte disorders in clinical practice and severe condition is life‐threatening and has received extensive attention in clinical practice. Genetic diagnosis remains the gold standard for the diagnosis and identification of hereditary renal tubular diseases. Below is the report of genotyping and diagnosis of a case of secondary Gitelman syndrome (GS) base...

A 29-year-old woman presented with a known nephrocalcinosis that had developed nine years earlier. Her past medical history was remarkable for a cardiac arrest secondary to a profound hypokalaemia (1.7 mEq/L) in the post-operative period following a complicated appendicular peritonitis at 19 years of age. Her on-going treatment included potassium citrate supplementation and increased fluid inta...

Fanconi-Bickel Syndrome (FBS) is a rare variety of glycogen storage disease (GSD). Characterized by massive hepatomegaly due to glycogen accumulation, severe hypophosphatemic rickets, and marked growth retardation due to proximal renal tubular dysfunction. We report a young boy presented as hypophosphatemic rickets with hepatomegaly and subsequently diagnosed as FBS.

BACKGROUND Buffalo/Mna rats spontaneously develop a nephrotic syndrome (NS). We have demonstrated that this rat nephropathy recurs after renal transplantation. We studied this recurrence by kinetic analysis of graft lesions, infiltrating cells and cytokines. METHODS Kidneys from LEW.1 W rats were grafted into proteinuric Buff/Mna or healthy Wistar Furth recipients. Kidney samples were harvest...

Most chronic kidney disease in infants and children results from congenital anomalies of the kidneys and urinary tract, including obstructive nephropathy. Although less common, inherited disorders such as polycystic kidney disease (PKD) and cystinosis also lead to progressive tubular injury and nephron loss. At the present time, therapies to slow progression of kidney disease are mainly directe...

Generalized capillary dysfunction is a morbid element in the metabolic syndrome, and it is likely involved in its complications. We tested the hypothesis that vast amounts of serum albumin previously observed in kidneys of rats with the metabolic syndrome were caused, in part, by leakage from renal peritubular capillaries. We report herein large scale leaks of plasma fluid in peritubular capill...

Renal involvement in Cockayne syndrome is rare and its pathogenesis is yet unknown. We report herein 2 cases (siblings) with Cockayne syndrome type A confirmed by biochemical and molecular assays. The first case was a 13-year-old girl who presented with nephritic syndrome and a rapidly progressive kidney failure. Her younger sister, 7 years old, exhibited hypertension, hyperfiltration, and micr...

background & objectives: tubular adenomas are rare benign epithelial tumours of breast affecting predominantly females of child bearing age group. till now, very small number of cases have been reported in the literature. present study was carried out to evaluate the clinico-pathological features of tubular adenoma cases diagnosed during three years study period along with discussion of pos...