scholarly journals Tubular Dysfunction and Ruptured Ureter in a Child with Menkes Syndrome

2021 ◽  
Vol 2021 ◽  
pp. 1-4
Author(s):  
Wun Fung Hui ◽  
Kam Lun Hon ◽  
Alexander K. C. Leung ◽  
Kristine Kit Yi Pang ◽  
Michael Wai Yip Leung
Keyword(s):  
Recurrent Urinary Tract Infection ◽  
Menkes Disease ◽  
Renal Stones ◽  
Potassium Citrate ◽  
Tubular Dysfunction ◽  
Renal Tubular Dysfunction ◽  
Bladder Diverticula ◽  
History Of ◽  
Imaging Surveillance ◽  
Renal Tubular

Children with Menkes disease may develop various urological and renal problems that evolve as the disease progresses. A 4-year-old boy with Menkes disease had multiple bladder diverticula and a history of recurrent urinary tract infection caused by urea-splitting organisms. The child developed urosepsis and right pyelonephritis. Subsequent investigations revealed multiple right renal stones and a ruptured right ureter. The child also developed hypokalemia, hypophosphatemia, and normal anion gap metabolic acidosis that required electrolyte and potassium citrate supplement. Further assessment revealed renal tubular dysfunction. Our case suggests that regular imaging surveillance, monitoring of renal function and electrolyte profile, and tubular function assessment should be considered in children with Menkes disease.

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

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

scholarly journals The association between serum vitamin D levels and renal tubular dysfunction in a general population exposed to cadmium in China

PLoS ONE ◽  
2018 ◽  
Vol 13 (4) ◽  
pp. e0195682 ◽  
Author(s):  
Xiao Chen ◽  
Yan Dai ◽  
Zhongqiu Wang ◽  
Guoying Zhu ◽  
Xiaoqiang Ding ◽  
...  
Keyword(s):  
Vitamin D ◽  
General Population ◽  
Serum Vitamin ◽  
Tubular Dysfunction ◽  
Renal Tubular Dysfunction ◽  
Serum Vitamin D ◽  
Vitamin D Levels ◽  
Renal Tubular

VITAMIN D DEPENDENCY: AN INHERITED POSTNATAL SYNDROME WITH SECONDARY HYPERPARATHYROIDISM

PEDIATRICS ◽  
1970 ◽  
Vol 46 (6) ◽  
pp. 871-880
Author(s):  
C. Arnaud ◽  
R. Maijer ◽  
T. Reade ◽  
C. R. Scriver ◽  
D. T. Whelan
Keyword(s):  
Vitamin D ◽  
Autosomal Recessive ◽  
Hypophosphatemic Rickets ◽  
First Year ◽  
Tubular Dysfunction ◽  
Renal Tubular Dysfunction ◽  
Recessive Trait ◽  
Daily Allowance ◽  
Renal Tubular ◽  
First Year Of Life

Three French-Canadian children in a large inbred pedigree each developed hypocalcemic, hypophosphatemic rickets in the latter half of their first year of life; there were also manifestations of generalized renal tubular dysfunction. These abnormalities, which mimic advanced Vitamin D deficiency, disappeared only when Vitamin D2 or D3 was given at about 100 times the recommended daily allowance; this indicated the diagnosis of Vitamin D dependency. Enamel hypoplasia was a prominent clinical finding; only those teeth which calcify postnatally were affected, indicating that the condition found does not affect Vitamin D-dependent nutrition in utero. The level of parathyroid hormone was elevated in serum before treatment; it fell to normal either after treatment with Vitamin D, or during intravenous infusion with a calcium solution sufficient to produce hypercalcemia. Vitamin D dependency appeared to be inherited as an autosomal recessive trait in this pedigree, but we could observe no phenotypic signs in presumably obligate heterozygotes. One of the three cases in the pedigree arose from outbreeding, suggesting that the mutant allele is probably not particularly rare in the population under our surveillance.

Sign in / Sign up

Export Citation Format

Share Document