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

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.

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.

A Rare Case of Congenital Distal Renal Tubular Acidosis Combined with Medullary Sponge Kidney

2014 ◽  
Vol 92 (2) ◽  
pp. 246-249 ◽  
Author(s):  
ZhiQun Zhang ◽  
YaLi Liu ◽  
MingJuan Dai ◽  
XianMei Huang
Keyword(s):  
Renal Tubular Acidosis ◽  
Rare Case ◽  
Distal Renal Tubular Acidosis ◽  
Medullary Sponge Kidney ◽  
Renal Tubular

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

Rare case of pseudohypoaldosteronism in a neonate secondary to congenital hydrometrocolpos

2020 ◽  
Vol 13 (6) ◽  
pp. e234813
Author(s):  
Shruti Kumar ◽  
Helen McDermott ◽  
Sheilah Kamupira ◽  
Juliana Chizo Agwu
Keyword(s):  
Weight Gain ◽  
Urinary Tract ◽  
Rare Case ◽  
Obstructive Uropathy ◽  
Tubular Dysfunction ◽  
Renal Tubular Dysfunction ◽  
Outflow Obstruction ◽  
Renal Tubular ◽  
Tract Infections ◽  
Poor Weight Gain

Pseudohypoaldosteronism (PHA) due to obstructive uropathy, urinary tract infections and congenital urogenital malformations has been reported in the literature; however, there are no reports of PHA associated with hydrometrocolpos due to a common urogenital tract. Hydrometrocolpos is a condition resulting in distension of the vagina and uterus due to accumulation of secretions (other than blood), caused by increased oestrogenic stimulation and vaginal outflow obstruction. We report on a neonatal case of PHA caused by recurrent hydrometrocolpos presenting with vomiting and poor weight gain. There was significant hyponatraemia, hyperkalaemia, and anaemia requiring medical stabilisation prior to surgery. The mechanism by which PHA occurs in obstruction involves renal tubular dysfunction due to pressure from hydronephrosis and the release of intrarenal cytokines. In addition, there is an immature or resistant renal tubular responsiveness to aldosterone during infancy. Clinicians should be aware of this uncommon but serious presentation.

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 clinical case of renal tubular acidosis type 1 in a 1-month old baby

2017 ◽  
Vol 98 (1) ◽  
pp. 129-131
Author(s):  
E V Voljanjuk ◽  
I J Lutfullin
Keyword(s):  
Metabolic Acidosis ◽  
Renal Tubular Acidosis ◽  
Rare Case ◽  
Metabolic Disorders ◽  
Hydrogen Ions ◽  
Distal Nephron ◽  
First Onset ◽  
Life Threatening ◽  
Renal Tubular

Renal tubular acidosis is a group of tubular diseases of the kidneys, whiсh are characterized by disorders of bicarbonate reabsorption, secretion of hydrogen ions, or a combination of both defects and cause metabolic acidosis with preserved glomerular filtration. Distal renal tubular acidosis is characterized by severe hyperchloraemic metabolic acidosis due to impaired excretion of hydrogen ions in the distal nephron. The prevalence of the primary distal renal acidosis is 1:40 000. Most often the first onset of the disease occurs at the age of 6 months to 2 years. The article presents a rare case of tubular acidosis type 1 in a child at the age of 1 month and 5 days. The presented case demonstrates that renal tubular acidosis can clinically manifest in children during the first months of life leading even at this age to severe metabolic disorders requiring certain raised level of suspicion for this pathology. Rarity of distant tubular acidosis is one of the factors predisposing to difficulty and tardiness of its diagnosis that leads to early disability and high risk of life-threatening conditions.

scholarly journals A rare case of genetically linked primary distal renal tubular acidosis and Southeast Asian ovalocytosis

2020 ◽  
Vol 50 (3) ◽  
pp. 383-385
Author(s):  
Jacqueline L. Martin ◽  
Alexander G. J. Davis‐Cochrane ◽  
Catherine Temelcos ◽  
Robert J. Unwin ◽  
Stephen B. Walsh ◽  
...  
Keyword(s):  
Renal Tubular Acidosis ◽  
Rare Case ◽  
Southeast Asian ◽  
Distal Renal Tubular Acidosis ◽  
Renal Tubular
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