β-Thalassemia minor & renal tubular dysfunction: is there any association?

Abstract Objective Beta(β)-thalassemia is one of the most common hereditary hematologic disorders. Patients with thalassemia minor (TM) are often asymptomatic and the rate of renal dysfunction is unknown in these patients. Due to the high prevalence of renal dysfunction in Iran, the current study aimed to determine renal tubular dysfunction in patients with beta-TM. Methods In this case-control study, 40 patients with TM and 20 healthy subjects were enrolled and urinary and blood biochemical analysis was done on their samples. Renal tubular function indices were determined and compared in both groups. Data was analyzed by SPSS software, version 20.0. Results The fraction excretion (FE) of uric acid was 8.31 ± 3.98% in the case and 6.2 ± 34.71% in the control group (p = 0.048). Also, FE of potassium was significantly higher in patients with TM (3.22 ± 3.13 vs. 1.91 ± 0.81; p = 0.036). The mean Plasma NGAL level was 133.78 ± 120.28 ng/mL in patients with thalassemia and 84.55 ± 45.50 ng/mL in the control group (p = 0.083). At least one parameter of tubular dysfunction was found in 45% of patients with thalassemia. Conclusion Based on the results of this study, the prevalence of tubular dysfunction in beta-thalassemia minor patients is high. Due to the lack of knowledge of patients about this disorder, periodic evaluation of renal function in TM patients can prevent renal failure by early diagnosis.

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Renal Tubular Dysfunction in a Patient with Beta-Thalassemia Minor

Nephron ◽

10.1159/000064463 ◽

2002 ◽

Vol 92 (1) ◽

pp. 222-223 ◽

Cited By ~ 6

Author(s):

Cagatay Oktenli ◽

Fatih Bulucu

Keyword(s):

Beta Thalassemia ◽

Tubular Dysfunction ◽

Renal Tubular Dysfunction ◽

Thalassemia Minor ◽

Renal Tubular

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Safe levels of cadmium intake to prevent renal toxicity in human subjects

British Journal Of Nutrition ◽

10.1017/s0007114500002403 ◽

2000 ◽

Vol 84 (6) ◽

pp. 791-802 ◽

Cited By ~ 134

Author(s):

Soisungwan Satarug ◽

Melissa R. Haswell-Elkins ◽

Michael R. Moore

Keyword(s):

Renal Dysfunction ◽

Renal Toxicity ◽

Human Subjects ◽

Adult Population ◽

Human Kidney ◽

Epidemiological Studies ◽

Tubular Dysfunction ◽

Renal Tubular Dysfunction ◽

Cadmium Intake ◽

Renal Tubular

The present review attempts to provide an update of the scientific knowledge on the renal toxicity which occurs in human subjects as a result of chronic ingestion of low-level dietary Cd. It highlights important features of Cd toxicology and sources of uncertainty in the assessment of health risk due to dietary Cd. It also discusses potential mechanisms for increased susceptibility to Cd toxicity in individuals with diabetes. Exposure assessment on the basis of Cd levels in foodstuffs reveals that vegetables and cereals are the main sources of dietary Cd, although Cd is also found in meat, albeit to a lesser extent. Cd accumulates particularly in the kidney and liver, and hence offal contains relatively high amounts. Fish contains only small quantities of Cd, while crustaceans and molluscs may accumulate larger amounts from the aquatic environment. Data on Cd accumulation in human kidney and liver obtained from autopsy studies are presented, along with results of epidemiological studies showing the relationship between renal tubular dysfunction and kidney Cd burden. These findings suggest that a kidney Cd level of 50 μg/g wet weight is a maximum tolerable level in order to avoid abnormal kidney function. This renal Cd burden corresponds to a urinary Cd excretion of 2 μg/d. Accordingly, safe daily levels of Cd intake should be kept below 30 μg per person. Individual variations in Cd absorption and sensitivity to toxicity predicts that a dietary Cd intake of 30 μg/d may result in a slight renal dysfunction in about 1 % of the adult population. The previous guideline for a maximum recommended Cd intake of 1 μg/kg body weight per d is thus shown to be too high to ensure that renal dysfunction does not occur as a result of dietary Cd intake.

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Renal tubular dysfunction in β-thalassemia minor

American Journal of Kidney Diseases ◽

10.1053/j.ajkd.2003.08.016 ◽

2003 ◽

Vol 42 (6) ◽

pp. 1164-1168 ◽

Cited By ~ 18

Author(s):

Turker Cetin ◽

Cagatay Oktenli ◽

Taner Ozgurtas ◽

Mujdat Yenicesu ◽

S.Yavuz Sanisoglu ◽

...

Keyword(s):

Tubular Dysfunction ◽

Renal Tubular Dysfunction ◽

Thalassemia Minor ◽

Renal Tubular

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A Novel Mutation of VPS33B Gene Associated with Incomplete Arthrogryposis-Renal Dysfunction-Cholestasis Phenotype

Case Reports in Genetics ◽

10.1155/2020/8872294 ◽

2020 ◽

Vol 2020 ◽

pp. 1-8

Author(s):

Eleni Agakidou ◽

Charalampos Agakidis ◽

Marios Kambouris ◽

Nicoleta Printza ◽

Maria Farini ◽

...

Keyword(s):

Renal Dysfunction ◽

Novel Mutation ◽

Protein Sorting ◽

Tubular Dysfunction ◽

Renal Tubular Dysfunction ◽

Gamma Glutamyl Transpeptidase ◽

Current Case ◽

Arc Syndrome ◽

Renal Tubular ◽

Vacuolar Protein

Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome is an autosomal recessive disorder caused by mutations of the VPS33B encoding the vacuolar protein sorting 33B (VPS33B), which is involved in the intracellular protein sorting and vesicular trafficking. We report a rare case of ARC syndrome without arthrogryposis caused by a novel mutation of VPS33B. A female patient of Greek origin presented on the 14th day of life with renal tubular acidosis, Fanconi syndrome, nephrogenic diabetes insipidus, and cholestasis with normal gamma-glutamyl transpeptidase, without arthrogryposis and dysmorphic features. She was born to apparently healthy, nonconsanguineous parents. Additional features included dry and scaling skin, generalized hypotonia, hypoplastic corpus callosum, neurodevelopmental delay, failure to thrive, short stature, recurrent febrile episodes with and without infections, and gastrointestinal bleeding. DNA testing revealed that the patient was homozygous for the novel c.1098_1099delTG (p.Glu367Alafs∗17) mutation of exon 14 of VPS33B gene (NM_018668) on chromosome 15q26.1, leading to a nonsense frameshift variant of VPS33B with premature termination of translation. Her parents were heterozygous for the same VPS33B mutation. The prognosis was predictably poor in the context of the intractable polyuria necessitating long-term parenteral fluid administration via indwelling central catheter leading to catheter-related sepsis, to which she eventually succumbed at the age of 7 months. This is the first published VPS33B mutation in an ARC patient of Greek origin. The current case adds to the spectrum of ARC-associated VPS33B mutations and provides evidence supporting the existence of incomplete ARC phenotype. Increased awareness and early genetic testing for ARC are suggested in cases with isolated cholestasis and/or renal tubular dysfunction, even in the absence of arthrogryposis.

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Renal Tubular Dysfunction

PEDIATRICS ◽

10.1542/peds.39.2.316 ◽

1967 ◽

Vol 39 (2) ◽

pp. 316-317

Author(s):

FRANCIS X. FELLERS

Keyword(s):

American Literature ◽

Renal Dysfunction ◽

Hepatorenal Syndrome ◽

Wilson’S Disease ◽

Tubular Dysfunction ◽

Renal Tubular Dysfunction ◽

Diverse Group ◽

Bartter's Syndrome ◽

Clinical Syndromes ◽

Renal Tubular

Professor Woolf has attempted to put together in this book a diverse group of 20 clinical syndromes which have in common some change in concentration of substances normally present in the urine. Each of these abnormalities is then identified, according to the compound present, as a specific renal dysfunction. This classification, convenient for historical description, was derived from a review of some 387 references from the English, French, and American literature. Very clear accounts are presented of cystinuria, galactosemia, Wilson's disease, hepatorenal syndrome, and renal hypoelectrolytemia (Bartter's syndrome).

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High sucrose diet induces morphological, structural and functional impairments in the renal tubules of Drosophila melanogaster: A model for studying type-2 diabetes mediated renal tubular dysfunction

Insect Biochemistry and Molecular Biology ◽

10.1016/j.ibmb.2020.103441 ◽

2020 ◽

Vol 125 ◽

pp. 103441

Author(s):

Lavi Rani ◽

Sanjay Saini ◽

Neha Shukla ◽

Debapratim Kar Chowdhuri ◽

Naveen Kumar Gautam

Keyword(s):

Type 2 Diabetes ◽

Tubular Dysfunction ◽

Renal Tubular Dysfunction ◽

Renal Tubules ◽

Functional Impairments ◽

Sucrose Diet ◽

High Sucrose Diet ◽

Renal Tubular ◽

High Sucrose

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

American Journal of Hypertension ◽

10.1093/ajh/hpaa160 ◽

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.

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