BIOCHEMICAL BASIS OF SODIUM VALPROATE HEPATOTOXICITY AND RENAL TUBULAR DISORDER: TIME DEPENDENCE OF PEROXIDATIVE INJURY

1997 ◽  
Vol 35 (2) ◽  
pp. 153-157 ◽  
Author(s):  
M. RAZA ◽  
A.M. AL-BEKAIRI ◽  
A.M. AGEEL ◽  
S. QURESHI
Keyword(s):  
Time Dependence ◽  
Sodium Valproate ◽  
Biochemical Basis ◽  
Renal Tubular Disorder ◽  
Renal Tubular

scholarly journals Gitelman syndrome and ectopic calcification in the retina and joints

2021 ◽  
Author(s):  
Yeji Ham ◽  
Heather Mack ◽  
Deb Colville ◽  
Philip Harraka ◽  
B Biomed ◽  
...  
Keyword(s):  
Calcium Pyrophosphate ◽  
Bartter Syndrome ◽  
Gitelman Syndrome ◽  
Ectopic Calcification ◽  
Aggressive Management ◽  
Renal Tubular Disorder ◽  
Rate Of Progression ◽  
Renal Tubular ◽  
Retinal Photography

ABSTRACT Gitelman syndrome is a rare inherited renal tubular disorder with features that resemble thiazide use, including a hypokalemic metabolic alkalosis, hypomagnesemia, hypocalciuria, a low or normal blood pressure, and hyperreninemia and hyperaldosteronism. Treatment is primarily correction of the K and Mg levels. The diagnosis is confirmed with genetic testing but Gitelman syndrome is often not suspected. However the association with ectopic calcification in the retina, blood vessels and chondrocalcinosis in the joints is a useful pointer to this diagnosis. Bilateral symmetrical whitish deposits of calcium pyrophosphate are visible superotemporally on ophthalmoscopy and retinal photography but are actually located beneath the retina in the sclerochoroid. Optical coherence tomography is even more sensitive for their detection. These deposits increase in size with time, but the rate of progression slows with long-term correction of the hypomagnesemia. Calcification may be complicated by atrophy of the overlying retina and visual loss. The deposits often correlate with ectopic calcification in the aorta, coronary and cerebral vessels. Chondrocalcinosis occurs in the large joints such as the knees. Ectopic calcification in Gitelman syndrome indicates the need for more aggressive management of Ca and Mg levels. Calcification is much less common in Bartter syndrome which itself is rarer and associated less often with hypomagnesemia.

Pregnancy in Inherited Hypokalemic Salt-Losing Renal Tubular Disorder

2011 ◽  
Vol 117 (2, Part 2) ◽  
pp. 512-516 ◽  
Author(s):  
Laura Mascetti ◽  
Alberto Bettinelli ◽  
Giacomo D. Simonetti ◽  
Alessandro Tagliabue ◽  
Marie Lousie Syrén ◽  
...  
Keyword(s):  
Renal Tubular Disorder ◽  
Renal Tubular

EXPRESS: A Rare Case of Persistent Hyperkalaemia

2021 ◽  
pp. 000456322110286
Author(s):  
Thomas Lewis ◽  
Gareth Roberts ◽  
Soha Zouwail
Keyword(s):  
Renal Function ◽  
Metabolic Acidosis ◽  
Thiazide Diuretic ◽  
Rare Case ◽  
Homeostatic Regulation ◽  
Biochemical Finding ◽  
Luminal Membrane ◽  
Renal Tubular Disorder ◽  
Associated Symptoms ◽  
Renal Tubular

Hyperkalaemia is a common biochemical finding that can allude to pre-analytical or truly pathological causes. Here, we present a case of a 41-year-old female patient who has regularly presented with incidences of isolated hyperkalaemia since 2012, with otherwise normal renal function and no other associated symptoms. Investigations into the patient’s family history revealed similar biochemical findings in her brother and eldest son. Familial causes of hyperkalaemia were investigated and an eventual diagnosis of pseudo-hypoaldosteronism type 2C was established. This is a rare congenital renal tubular disorder, also known as Gordon syndrome, that can cause a characteristic triad of symptoms that include hyperkalaemia, metabolic acidosis and hypertension. The presence and severity of each of these symptoms is dependent upon the disease-causing mutation that occurs in WNK4, WNK1, CUL3 or KLHL3 genes. These mutations alter the regulation of sodium/chloride co-transporter (NCC) expression on the luminal membrane of the principal cells of the distal convoluted tubule, disrupting normal homeostatic regulation of electrolyte reabsorption and excretion. The resolution for treating this condition is the administration of a thiazide diuretic, which directly counteracts the effects of NCC co-transporter overexpression and consequently aims to resolve the symptoms that arise as a result of this aberrant signalling. The case described here uniquely presents an extremely rare pathogenic variant in the conserved acidic motif of WNK1 resulting in a clear electrolyte phenotype with no hypertension.

Pregnancy in Inherited Hypokalemic Salt-losing Renal Tubular Disorder

2012 ◽  
Vol 32 (1) ◽  
pp. 63-64
Author(s):  
L. Mascetti ◽  
A. Bettinelli ◽  
GD. Simonetti ◽  
A. Tagliabue ◽  
ML. Syrén ◽  
...  
Keyword(s):  
Renal Tubular Disorder ◽  
Renal Tubular

scholarly journals A Rare Case of Cholestasis: Arthrogryposis, Renal Tubular Disorder and Cholestasis Syndrome

2018 ◽  
Vol 5 (3) ◽  
pp. 161-163
Author(s):  
Yelda Türkmenoğlu ◽  
Yeşim Acar ◽  
Fatih Cemal Özdemir ◽  
Ralfi Singer ◽  
Afig Berdeli ◽  
...  
Keyword(s):  
Rare Case ◽  
Renal Tubular Disorder ◽  
Renal Tubular

Risk factors for sodium valproate-induced renal tubular dysfunction

2017 ◽  
Vol 22 (2) ◽  
pp. 420-425 ◽  
Author(s):  
Satoko Koga ◽  
Takahisa Kimata ◽  
Sohsaku Yamanouchi ◽  
Shoji Tsuji ◽  
Ken Yoshimura ◽  
...  
Keyword(s):  
Risk Factors ◽  
Sodium Valproate ◽  
Tubular Dysfunction ◽  
Renal Tubular Dysfunction ◽  
Renal Tubular

scholarly journals Severe Polyhydramnios with Consistent Fetal Full Bladder: A Novel Sign of Antenatal Bartter's Disease

2020 ◽  
Vol 09 (04) ◽  
pp. 296-300
Author(s):  
Seema Thakur ◽  
Manisha Kumar ◽  
Supriya Malhotra ◽  
Preeti Paliwal ◽  
Vandana Thareja ◽  
...  
Keyword(s):  
Amniotic Fluid ◽  
Obstructive Uropathy ◽  
Maternal Blood ◽  
Structural Anomaly ◽  
Full Bladder ◽  
Renal Tubular Disorder ◽  
Concentrate Urine ◽  
Sugar Profile ◽  
Renal Tubular ◽  
Generation Sequencing

AbstractBartter's disease, an inherited renal tubular disorder is due to a defect in ion transport across the ascending limb of the loop of Henle leading to failure of the ability of kidneys to concentrate urine and hence polyuria. We present three fetuses of mothers with severe polyhydramnios with normal maternal blood sugar profile, routine Toxoplasma, Rubella, Cytomegalovirus, Herpes (TORCH) serology. The ultrasound showed no structural anomaly in the fetus, but consistent overdistended bladder with severe polyhydramnios was observed without any evidence of obstructive uropathy. The biochemical test on amniotic fluid was suggestive of Bartter's disease in case 1 and borderline in case 2, and next-generation sequencing confirmed a mutation of KCNJ1 associated with Bartter's disease Type II in case 1 and a mutation in SLC21A1 in case 2. Amniotic fluid biochemistry was inconclusive in case 3. A consistent full bladder with severe polyhydramnios with onset around 24 to 25 weeks was a novel finding which was observed due to fetal polyuria and can be used as a clue to investigate cases with severe polyhydramnios with no structural anomaly. Antenatal diagnosis will help in the proper management of child and genetic counseling for the next pregnancy.

scholarly journals A man with a worrying potassium deficiency

2014 ◽  
Vol 2014 ◽  
Author(s):  
A Tabasum ◽  
C Shute ◽  
D Datta ◽  
L George
Keyword(s):  
Metabolic Alkalosis ◽  
Clinical Suspicion ◽  
Older Age ◽  
List Type ◽  
Slc12a3 Gene ◽  
Clinical Presentations ◽  
Renal Tubular Disorder ◽  
Long Term Prognosis ◽  
Renal Tubular

Summary Hypokalaemia may present as muscle cramps and Cardiac arrhythmias. This is a condition commonly encountered by endocrinologists and general physicians alike. Herein, we report the case of a 43-year-old gentleman admitted with hypokalaemia, who following subsequent investigations was found to have Gitelman's syndrome (GS). This rare, inherited, autosomal recessive renal tubular disorder is associated with genetic mutations in the thiazide-sensitive sodium chloride co-transporter and magnesium channels in the distal convoluted tubule. Patients with GS typically presents at an older age, and a spectrum of clinical presentations exists, from being asymptomatic to predominant muscular symptoms. Clinical suspicion should be raised in those with hypokalaemic metabolic alkalosis associated with hypomagnesaemia. Treatment of GS consists of long-term potassium and magnesium salt replacement. In general, the long-term prognosis in terms of preserved renal function and life expectancy is excellent. Herein, we discuss the biochemical imbalance in the aetiology of GS, and the case report highlights the need for further investigations in patients with recurrent hypokalaemic episodes. Learning points Recurrent hypokalaemia with no obvious cause warrants investigation for hereditary renal tubulopathies. GS is the most common inherited renal tubulopathy with a prevalence of 25 per million people. GS typically presents at an older age and clinical suspicion should be raised in those with hypokalaemic metabolic alkalosis associated with hypomagnesaemia. Confirmation of diagnosis is by molecular analysis for mutation in the SLC12A3 gene.

scholarly journals Rare Variant of Bartter Syndrome with Sensorineural Deafness

2016 ◽  
Vol 35 (3) ◽  
pp. 293-294
Author(s):  
Rajesh Kumar ◽  
Pankaj Kumar ◽  
Manoj Kumar
Keyword(s):  
Blood Pressure ◽  
Sodium Chloride ◽  
Rare Variant ◽  
Metabolic Alkalosis ◽  
Sensorineural Deafness ◽  
Bartter Syndrome ◽  
Normal Blood ◽  
Normal Blood Pressure ◽  
Renal Tubular Disorder ◽  
Renal Tubular

Bartter syndrome is an inherited renal tubular disorder characterized by hypokalemia, hypochloremic metabolic alkalosis, hyperreninemia, hyper-prostaglandinism, normal blood pressure, with increased urinary loss of sodium, chloride, potassium, calcium and prostaglandins. There are five known type of Bartter syndrome, out of which type 4 and 5 are very rare. We are presenting here a case of Bartter syndrome with sensorineural hearing loss.J Nepal Paediatr Soc 2015;35(3):293-294.

scholarly journals CLC-5 and KIF3B interact to facilitate CLC-5 plasma membrane expression, endocytosis, and microtubular transport: relevance to pathophysiology of Dent's disease

2010 ◽  
Vol 298 (2) ◽  
pp. F365-F380 ◽  
Author(s):  
Anita A. C. Reed ◽  
Nellie Y. Loh ◽  
Sara Terryn ◽  
Jonathan D. Lippiat ◽  
Chris Partridge ◽  
...  
Keyword(s):  
Plasma Membrane ◽  
Endocytic Pathway ◽  
Cell Surface Expression ◽  
Renal Tubules ◽  
Membrane Expression ◽  
Dent’S Disease ◽  
Dent's Disease ◽  
Plasma Membrane Expression ◽  
Renal Tubular Disorder ◽  
Renal Tubular

Renal tubular reabsorption is important for extracellular fluid homeostasis and much of this occurs via the receptor-mediated endocytic pathway. This pathway is disrupted in Dent’s disease, an X-linked renal tubular disorder that is characterized by low-molecular-weight proteinuria, hypercalciuria, nephrolithiasis, and renal failure. Dent's disease is due to mutations of CLC-5, a chloride/proton antiporter, expressed in endosomes and apical membranes of renal tubules. Loss of CLC-5 function alters receptor-mediated endocytosis and trafficking of megalin and cubilin, although the underlying mechanisms remain to be elucidated. Here, we report that CLC-5 interacts with kinesin family member 3B (KIF3B), a heterotrimeric motor protein that facilitates fast anterograde translocation of membranous organelles. Using yeast two-hybrid, glutathione- S-transferase pull-down and coimmunoprecipitation assays, the COOH terminus of CLC-5 and the coiled-coil and globular domains of KIF3B were shown to interact. This was confirmed in vivo by endogenous coimmunoprecipitation of CLC-5 and KIF3B and codistribution with endosomal markers in mouse kidney fractions. Confocal live cell imaging in kidney cells further demonstrated association of CLC-5 and KIF3B, and transport of CLC-5-containing vesicles along KIF3B microtubules. KIF3B overexpression and underexpression, using siRNA, had reciprocal effects on whole cell chloride current amplitudes, CLC-5 cell surface expression, and endocytosis of albumin and transferrin. Clcn5Y/− mouse kidneys and isolated proximal tubular polarized cells showed increased KIF3B expression, whose effects on albumin endocytosis were dependent on CLC-5 expression. Thus, the CLC-5 and KIF3B interaction is important for CLC-5 plasma membrane expression and for facilitating endocytosis and microtubular transport in the kidney.

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