Sanfilippo disease (mucopolysaccharidosis type III) presenting as transient renal tubular dysfunction

1996 ◽  
Vol 19 (1) ◽  
pp. 87-88 ◽  
Author(s):  
U. Ramaswami ◽  
W. Van 'tHoff ◽  
P. Clayton ◽  
A. Vellodi
Keyword(s):  
Tubular Dysfunction ◽  
Renal Tubular Dysfunction ◽  
Mucopolysaccharidosis Type ◽  
Type Iii ◽  
Mucopolysaccharidosis Type Iii ◽  
Renal Tubular ◽  
Sanfilippo Disease

Growth in patients with mucopolysaccharidosis type III (Sanfilippo disease)

2013 ◽  
Author(s):  
J. de Ruijter ◽  
L. Broere ◽  
M. F. Mulder ◽  
A. T. van der Ploeg ◽  
M. E. Rubio-Gozalbo ◽  
...  
Keyword(s):  
Mucopolysaccharidosis Type ◽  
Type Iii ◽  
Mucopolysaccharidosis Type Iii ◽  
Sanfilippo Disease

scholarly journals Ataxia is the major neuropathological finding in arylsulfatase G-deficient mice: similarities and dissimilarities to Sanfilippo disease (mucopolysaccharidosis type III)

2014 ◽  
Vol 24 (7) ◽  
pp. 1856-1868 ◽  
Author(s):  
Björn Kowalewski ◽  
Peter Heimann ◽  
Theresa Ortkras ◽  
Renate Lüllmann-Rauch ◽  
Tomo Sawada ◽  
...  
Keyword(s):  
Mucopolysaccharidosis Type ◽  
Type Iii ◽  
Mucopolysaccharidosis Type Iii ◽  
Neuropathological Finding ◽  
Sanfilippo Disease ◽  
Deficient Mice

scholarly journals Abnormalities of glycosphingolipids in mucopolysaccharidosis type III B.

1984 ◽  
Vol 25 (2) ◽  
pp. 175-184
Author(s):  
A Hara ◽  
N Kitazawa ◽  
T Taketomi
Keyword(s):  
Mucopolysaccharidosis Type ◽  
Type Iii ◽  
Mucopolysaccharidosis Type Iii

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.

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