Bartter syndrome is an inherited renal tubular disorder with hypokalemia, hypochloremic metabolic alkalosis, normal blood pressure with hyper-reninemia and increased urinary loss of sodium, potassium and chloride. We report an infant with neonatal Bartter syndrome, who improved with potassium supplements.

Primary Sjögren's syndrome is an autoimmune disease presenting classically as keratoconjunctivitis sicca. Renal involvement in Sjögrens's syndrome is less common, and the initial presentation with renal complications without any sicca symptoms is extremely rare. The renal involvement may present with symptoms arising from interstitial nephritis, mainly distal renal tubular acidosis.

More frequently than first believed, kidney involvement after SARS-CoV-2 infection is linked to morbidity and mortality. Similar the etiology of other types AKI, pathophysiology COVID-19 AKI most likely complex. Although rates vary significantly across studies geographical areas, information currently available points an incidence > 20% in hospitalized patients. There are several similarities b...

We present the case of a 9-year-old child with lysinuric protein intolerance and Fanconi syndrome. She was referred to our hospital with a persistent metabolic acidosis and polyuria. Renal investigations revealed all laboratory signs of Fanconi syndrome, with glucosuria, generalized aminoaciduria, phosphaturia and severe hypercalciuria. The diagnosis of Fanconi syndrome was confirmed by a renal...

We report a case of hypokalaemic quadriparesis in 31-year old woman in whom the discovery of distal renal tubular acidosis led to the diagnosis of primary Sjögren's syndrome. Hypokalaemic paralysis as initial manifestation of primary Sjögren's syndrome is rare, but when it occurs it may precede symptoms of xerostomia and xerophthalmia. The diagnosis of primary Sjögren's syndrome should be consi...

ARC syndrome, the association of arthrogryposis, renal tubular dysfunction and cholestasis, is a rare genetic disorder. We report two Saudi infants from two different families with ARC syndrome. Magnetic resonance imaging of the brain of one of the infants showed lissencephaly, a previously unreported finding in this syndrome. We also review 39 ARC cases reported in the literature using the Med...

BACKGROUND Sjögren's syndrome is an autoimmune disorder caused by the infiltration of monocytes in epithelial glandular and extra-glandular tissues. Hallmark presentations include mouth and eye dryness. Although renal involvement is uncommon in primary Sjögren's syndrome (pSS), patients may experience renal tubular acidosis type I (RTA I), tubulointerstitial nephritis, diabetes insipidus (DI), ...

Proximal renal tubular acidosis (RTA) (Type II RTA) is characterized by a defect in the ability to reabsorb HCO(3) in the proximal tubule. This is usually manifested as bicarbonate wastage in the urine reflecting that the defect in proximal tubular transport is severe enough that the capacity for bicarbonate reabsorption in the thick ascending limb of Henle's loop and more distal nephron segmen...

Fanconi syndrome (FS) is a rare condition that is characterized by defects in the proximal tubular function. A 48-year-old woman was admitted for evaluation of proteinuria. The patient showed normal anion gap acidosis, normoglycemic glycosuria, hypophosphatemia, and hypouricemia. Thus, her condition was compatible with FS. The M peak was found behind the beta globulin region in urine protein el...

Cystinosis, the most frequent cause of inborn Fanconi syndrome, is characterized by the lysosomal cystine accumulation, caused by mutations in the CTNS gene. To elucidate the pathogenesis of cystinosis, we cultured proximal tubular cells from urine of cystinotic patients (n = 9) and healthy controls (n = 9), followed by immortalization with human papilloma virus (HPV E6/E7). Obtained cell lines...