The association of rickets or osteomalacia with a variety of renal tubular defects, probably congenital, has been called by many different names such as resistant rickets, Fanconi syndrome, and hyperchloraemic acidosis with nephrocalcinosis. They have been classified by I)ent (1952) into six main types according to the various combinations of recognisal)Ie defects of tubule function. The Fancon...

BACKGROUND Labyrinthine Aplasia, Microtia and Microdontia (LAMM) syndrome is characterized by the complete absence of inner ear structures (Michel aplasia), microtia and microdontia. Hypophosphatemic rickets results from defects in the renal tubular reabsorption of filtered phosphate. CASE CHARACTERISTICS 13-year-old Indian girl presented with deafness since infancy and progressive wrist wide...

Gitelman syndrome is an autosomal recessive disease characterized by hypokalemic metabolic alkalosis, hypomagnesemia, and hypocalciuria 1) . This disorder is caused by mutation in the SLC12A3 gene, which encodes the thiazide-sensitive NaCl cotransporter (NCCT). Acquired renal tubular disorder can be observed in various disease processes, especially autoimmune diseases 2-10) . Acquired Gitelman ...

We present here an account of two infant sisters suffering from a congenital and, probably, inherited disease, the chief features of which were epilepsy, cataracts, renal tubular necrosis and an encephalopathy comprising micrencephaly, lack of myelination and cerebellar dysplasia. The condition resembles the so-called Marinesco-Sjogren syndrome and also the oculo-cerebro-renal (Lowe's) syndrome...

Endogenous toxins are protein molecules whose content in the blood is determined by destruction of cells. Not being normal components plasma, they subject to elimination from bloodstream. Due accumulation endogenous toxic substances, intoxication a frequent complication many acute and chronic diseases respiratory system. The present study revealed significant increase markers tubular lesion chi...

Dabigatran is a direct thrombin inhibitor used as an alternative to warfarin for long term anticoagulation. Warfarin-related nephropathy is an increasingly recognized entity, but recent evidence suggests that dabigatran can cause a WRN-like syndrome. We describe a case of a biopsy-proven anticoagulant nephropathy related to dabigatran in a patient with IgA nephropathy and propose that, despite ...

Fanconi-Bickel syndrome (FBS) is a rare inherited glycogen storage disease (GSD) caused by defects in facilitative Glucose Transporter (GLUT2) gene that codes for the glucose transporter protein 2 expressed in hepatocytes, pancreatic beta cells, enterocytes, and renal tubular cells. The clinical picture is characterized by glycogen accumulation in liver and kidney resulting in hepatomegaly and ...

Cases of kidney injury associated with the use of deferasirox chelation therapy during the course of treatment for iron overload have been reported infrequently. We present the case of a patient treated with deferasirox who had biopsy-proven tubular injury in the setting of clinical Fanconi syndrome. The patient required hospitalization for metabolic acidosis, electrolyte abnormalities, and ass...

Acute tubular necrosis (ATN) is a syndrome of intrinsic renal failure secondary to ischemic or toxic insults. The histopathologic findings of ATN are inconstant. When present, they are limited to the tubulo-interstitium and often subtle despite profound dysfunction. Experimental models of ATN in healthy animals commonly use single insults that result in extensive injury, circumstances that do n...

The renal tubule is responsible for the reabsorption of more than 99% of the water and sodium in the glomerular ultrafiltrate. Congenital or acquired tubular dysfunction can therefore readily cause profound electrolyte and volume disturbance. The tubule also has to regulate acid– base balance, mineral homoeostasis, and the excretion of organic anions and drugs. To fulfil these functions, a larg...