Bartter syndrome and hypothyroidism masquerading cystinosis in a 3-year-old girl: rare manifestation of a rare disease

2021 ◽  
Vol 14 (7) ◽  
pp. e242954
Author(s):  
Gargi Das ◽  
Pamali Mahasweta Nanda ◽  
Anupriya Kaur ◽  
Rakesh Kumar
Keyword(s):  
Metabolic Alkalosis ◽  
Failure To Thrive ◽  
Bartter Syndrome ◽  
Chromosome 17 ◽  
Tubular Dysfunction ◽  
Renal Tubular Dysfunction ◽  
Multisystem Disorder ◽  
Organ Systems ◽  
Rare Manifestation ◽  
Renal Tubular

Cystinosis is a multisystem disorder with varied presentations secondary to deposition of cystine crystals in different organ systems. Children with cystinosis typically present with renal tubular acidosis and failure to thrive. We report a 3-year-old girl, born to a third-degree consanguineous couple, who presented with failure to thrive and polyuria. Laboratory investigations showed metabolic alkalosis suggestive of a Bartter-like syndrome and acquired hypothyroidism. Although metabolic alkalosis is a rare manifestation of cystinosis, the presence of renal tubular dysfunction and hypothyroidism prompted consideration of a probable diagnosis of cystinosis in the index child. Slit-lamp examination revealed cystine crystals in the cornea and genetic analysis showed a mutation in exon 9 of the CTNS (cystinosin, lysosomal cystine transporter) gene on chromosome 17. We highlight the importance of considering cystinosis as a differential diagnosis for Bartter syndrome and hypothyroidism.

Renal Sodium Handling in Relation to Environmental and Genetic Factors in Untreated Chinese

2020 ◽  
Author(s):  
Yuan-Yuan Kang ◽  
Yi-Bang Cheng ◽  
Qian-Hui Guo ◽  
Chang-Sheng Sheng ◽  
Qi-Fang Huang ◽  
...  
Keyword(s):  
Blood Pressure ◽  
Multiple Testing ◽  
Genetic Factors ◽  
Blood Pressure Monitoring ◽  
Lithium Concentration ◽  
Tubular Dysfunction ◽  
Renal Tubular Dysfunction ◽  
Renal Sodium Handling ◽  
Renal Tubular ◽  
Sodium Handling

Abstract Background We investigated proximal and distal renal tubular sodium handling, as assessed by fractional excretion of lithium (FELi) and fractional distal reabsorption rate of sodium (FDRNa), in relation to environmental and genetic factors in untreated patients. Methods Our study participants were suspected hypertensive patients being off antihypertensive medication for ≥2 weeks and referred for 24-hour ambulatory blood pressure monitoring. We collected serum and 24-hour urine for measurement of sodium, creatinine and lithium concentration, and calculated FELi and FDRNa. We genotyped 19 SNPs associated with renal sodium handling or blood pressure using the ABI SNapShot method. Results The 1409 participants (664 men, 47.1%) had a mean (±SD) age of 51.0±10.5 years. After adjustment for host factors, both FELi and FDRNa were significantly (P≤0.01) associated with season and humidity, explaining ~1.3% and ~3.5% of the variance, respectively. FELi was highest in autumn and lowest in summer and intermediate in spring and winter (P=0.007). FDRNa was also highest in autumn but lowest in winter and intermediate in spring and summer (P<0.001). Neither FELi nor FDRNa was associated with outdoor temperature or atmospheric pressure (P≥0.13). After adjustment for host and environmental factors and Bonferroni multiple testing, among the 19 studied genetic variants, only rs12513375 was significantly associated with FELi and FDRNa (P≤0.004) and explained about 1.7% of the variance. Conclusions Renal sodium handling as measured by endogenous lithium clearance was sensitive to major environmental and genetic factors. Our finding is towards the use of these indexes for the definition of renal tubular dysfunction.

scholarly journals Tenofovir disoproxil fumarate-associated renal tubular dysfunction

AIDS ◽  
2017 ◽  
Vol 31 (9) ◽  
pp. 1297-1301 ◽  
Author(s):  
Ryan Samuels ◽  
Carla Roca Bayerri ◽  
John A. Sayer ◽  
D. Ashley Price ◽  
Brendan A.I. Payne
Keyword(s):  
Tenofovir Disoproxil Fumarate ◽  
Tubular Dysfunction ◽  
Renal Tubular Dysfunction ◽  
Renal Tubular

Proximal Renal Tubular Dysfunction Related to Antiretroviral Therapy Among HIV-Infected Patients in an HIV Clinic in Mexico

2015 ◽  
Vol 29 (4) ◽  
pp. 181-185 ◽  
Author(s):  
Karen Andrade-Fuentes ◽  
José A. Mata-Marín ◽  
José I. López-De León ◽  
Bulmaro Manjarrez-Téllez ◽  
Jorge L. Sandoval Ramírez ◽  
...  
Keyword(s):  
Antiretroviral Therapy ◽  
Tubular Dysfunction ◽  
Renal Tubular Dysfunction ◽  
Proximal Renal Tubular Dysfunction ◽  
Renal Tubular

Induction of neonatal renal tubular dysfunction by transplacentally acquired IgG from a mother with Sjögren syndrome

1985 ◽  
Vol 107 (4) ◽  
pp. 566-569 ◽  
Author(s):  
Stanley C. Jordan ◽  
Rebecca Sakai ◽  
Michael A. Tabak ◽  
Robert B. Ettenger ◽  
Arthur H. Cohen ◽  
...  
Keyword(s):  
Sjögren Syndrome ◽  
Tubular Dysfunction ◽  
Renal Tubular Dysfunction ◽  
Sjogren Syndrome ◽  
Renal Tubular

scholarly journals Unusual Complication of Multidrug Resistant Tuberculosis

2017 ◽  
Vol 2017 ◽  
pp. 1-3 ◽  
Author(s):  
Prerna Sharma ◽  
Ravindra Nath Sahay
Keyword(s):  
Multidrug Resistant ◽  
Bartter Syndrome ◽  
Unusual Complication ◽  
Tubular Dysfunction ◽  
Renal Tubular Dysfunction ◽  
Dominant Type ◽  
Normal Limits ◽  
Resistant Tuberculosis ◽  
Multidrug Resistant Tuberculosis ◽  
Serum Pth

Introduction. Capreomycin is a second-line drug often used for multidrug-resistant tuberculosis which can result in nephrotoxic effects similar to other aminoglycosides. We describe a case of capreomycin induced Bartter-like syndrome with hypocalcemic tetany. Case Report. 23-year-old female patient presented with carpopedal spasms and tingling sensations in hands. Patient was being treated with capreomycin for two months for tuberculosis. On further investigation, hypocalcemia, hyponatremia, hypomagnesemia, hypokalemia, and hypochloremic metabolic alkalosis were noted. Vitamin D and serum PTH levels were within normal limits. Hypercalciuria was confirmed by urine calcium/creatinine ratio. Calcium, potassium, and magnesium supplementation was given and capreomycin was discontinued. Electrolytes normalized in two days after cessation of capreomycin with no further abnormalities on repeat investigations. Discussion. Aminoglycosides can result in renal tubular dysfunction leading to Fanconi syndrome, Bartter syndrome, and distal tubular acidosis. Impaired mitochondrial function in the tubular cells has been hypothesized as the possible cause of these tubulopathies. Acquired Bartter-like syndrome phenotypically resembles autosomal dominant type 5 Bartter syndrome. Treatment consists of correction of electrolyte abnormalities, indomethacin, and potassium-sparing diuretics. Prompt diagnosis and treatment of severe dyselectrolytemia are warranted in patients on aminoglycoside therapy.

Prenatal and Early Postnatal Intoxication by Inorganic Mercury Resulting from the Maternal Use of Mercury Containing Soap

1987 ◽  
Vol 6 (3) ◽  
pp. 253-256 ◽  
Author(s):  
R. Lauwerys ◽  
Ch. Bonnier ◽  
Ph. Evrard ◽  
J. Ph. Gennart ◽  
A. Bernard
Keyword(s):  
Inorganic Mercury ◽  
Tubular Dysfunction ◽  
Renal Tubular Dysfunction ◽  
Lactation Period ◽  
Foetal Life ◽  
Renal Tubular ◽  
Black Boy

A case of slight renal tubular dysfunction associated with cataract and anaemia was diagnosed in a 3-month-old black boy in whom high levels of mercury were found in blood and urine. Several arguments suggest that the renal, ocular and haematological defects may have resulted from exposure to mercury during foetal life and the 1-month lactation period due to the extensive use of inorganic mercury containing cosmetics by the mother.

scholarly journals Renal tubular dysfunction increases mortality in the Japanese general population living in cadmium non-polluted areas

2014 ◽  
Vol 25 (4) ◽  
pp. 399-404 ◽  
Author(s):  
Yasushi Suwazono ◽  
Kazuhiro Nogawa ◽  
Yuko Morikawa ◽  
Muneko Nishijo ◽  
Etsuko Kobayashi ◽  
...  
Keyword(s):  
General Population ◽  
Tubular Dysfunction ◽  
Renal Tubular Dysfunction ◽  
Japanese General Population ◽  
Renal Tubular
Sign in / Sign up

Export Citation Format

Share Document