scholarly journals Tubular Dysfunction Mimicking Dent’s Disease in 2 Infants Born with Extremely Low Birth Weight

2017 ◽  
Vol 7 (1) ◽  
pp. 13-17 ◽  
Author(s):  
Midori Awazu ◽  
Mie Arai ◽  
Shoko Ohashi ◽  
Hirotaka Takahashi ◽  
Takashi Sekine ◽  
...  
Keyword(s):  
Molecular Weight ◽  
Birth Weight ◽  
Low Birth Weight ◽  
Extremely Low Birth Weight ◽  
Low Molecular Weight ◽  
Tubular Dysfunction ◽  
Low Molecular Weight Proteinuria ◽  
Proximal Tubular Dysfunction ◽  
Dent's Disease ◽  
Proximal Tubular

Two preterm infants, with extremely low birth weight born at gestational weeks 24 and 25, showed generalized proximal tubular dysfunction during their stay in the neonatal intensive care unit, including glucosuria, low molecular weight proteinuria, phosphaturia, uricosuria, enzymuria (elevated urine N-acetyl-β-D-glucosaminidase), panaminoaciduria, and hypercalciuria, associated with renal calcification. Renal tubular acidosis was not present in either patient. DNA mutation analysis for Dent’s disease, performed in patient 1, was negative. Although both patients had rickets of prematurity, tubular dysfunction persisted after its resolution. Patient 2, who had severe chronic lung disease, also had elevated serum creatinine, proteinuria, and hypertension, suggesting glomerular damage. In patient 1, low molecular weight proteinuria, enzymuria, panaminoaciduria, hypercalciuria, and renal calcification were still present at the age of 8 years. In patient 2, tubular dysfunction resolved except for β2 microglobulinuria at the age of 5 years. While a reduced nephron number resulting in focal segmental glomerulosclerosis is well-known, generalized proximal tubular dysfunction can also occur in infants born preterm and/or with extremely low birth weight.

Combined proteomic and metabonomic studies in three genetic forms of the renal Fanconi syndrome

2007 ◽  
Vol 293 (2) ◽  
pp. F456-F467 ◽  
Author(s):  
Annalisa Vilasi ◽  
Pedro R. Cutillas ◽  
Anthony D. Maher ◽  
Severine F. M. Zirah ◽  
Giovambattista Capasso ◽  
...  
Keyword(s):  
Molecular Weight ◽  
Fanconi Syndrome ◽  
Low Molecular Weight ◽  
Renal Fanconi Syndrome ◽  
Dent’S Disease ◽  
H Nmr ◽  
Low Molecular Weight Proteinuria ◽  
Dent's Disease ◽  
Underlying Mechanisms ◽  
Normal Urine

The renal Fanconi syndrome is a defect of proximal tubular function causing aminoaciduria and low-molecular-weight proteinuria. Dent's disease and Lowe syndrome are defined X-linked forms of Fanconi syndrome; there is also an autosomal dominant idiopathic form (ADIF), phenotypically similar to Dent's disease though its gene defect is still unknown. To assess whether their respective gene products are ultimately involved in a common reabsorptive pathway for proteins and low-molecular-mass endogenous metabolites, we compared renal Fanconi urinary proteomes and metabonomes with normal (control) urine using mass spectrometry and1H-NMR spectroscopy, respectively. Urine from patients with low-molecular-weight proteinuria secondary to ifosfamide treatment (tubular proteinuria; TP) was also analyzed for comparison. All four of the disorders studied had characteristic proteomic and metabonomic profiles. Uromodulin was the most abundant protein in normal urine, whereas Fanconi urine was dominated by albumin.1H-NMR spectroscopic data showed differences in the metabolic profiles of Fanconi urine vs. normal urine, due mainly to aminoaciduria. There were differences in the urinary metabolite and protein compositions between the three genetic forms of Fanconi syndrome: cluster analysis grouped the Lowe and Dent's urinary proteomes and metabonomes together, whereas ADIF and TP clustered together separately. Our findings demonstrate a distinctive “polypeptide and metabolite fingerprint” that can characterize the renal Fanconi syndrome; they also suggest that more subtle and cause-specific differences may exist between the different forms of Fanconi syndrome that might provide novel insights into the underlying mechanisms and cellular pathways affected.

Hypercalciuria and Nephrocalcinosis in Patients with Idiopathic Low-Molecular-Weight Proteinuria in Japan: Is the Disease Identical to Dent’s Disease in United Kingdom?

Nephron ◽  
1995 ◽  
Vol 69 (3) ◽  
pp. 242-247 ◽  
Author(s):  
Takashi Igarashi ◽  
Hiroshi Hayakawa ◽  
Hiroshi Shiraga ◽  
Hidehiko Kawato ◽  
Kunimasa Yan ◽  
...  
Keyword(s):  
Molecular Weight ◽  
United Kingdom ◽  
Low Molecular Weight ◽  
Dent’S Disease ◽  
Low Molecular Weight Proteinuria ◽  
Dent's Disease

Tubular dysfunction in extremely low birth weight survivors

2018 ◽  
Vol 23 (3) ◽  
pp. 395-401 ◽  
Author(s):  
Kazuya Matsumura ◽  
Yohei Matsuzaki ◽  
Mariko Hida ◽  
Kazushige Ikeda ◽  
Midori Awazu
Keyword(s):  
Birth Weight ◽  
Low Birth Weight ◽  
Extremely Low Birth Weight ◽  
Tubular Dysfunction

scholarly journals SINGLE CENTRE, OPEN-LABEL & NON RANDOMIZED CLINICAL TRIAL TESTING LMWH EFFICACY ON PERINATAL OUTCOME INLATE SECOND TRIMESTER OLIGOHYDRAMNIOS CASES

2021 ◽  
Vol 71 (3) ◽  
pp. 952-56
Author(s):  
Bushra Iftikhar ◽  
Aysha Shahid ◽  
Nuzhat Aisha Akram ◽  
Afeera Afsheen ◽  
Rabia Mushtaq ◽  
...  
Keyword(s):  
Molecular Weight ◽  
Birth Weight ◽  
Low Birth Weight ◽  
Amniotic Fluid ◽  
Apgar Score ◽  
Low Molecular Weight Heparin ◽  
Low Molecular Weight ◽  
Second Trimester ◽  
Amniotic Fluid Index ◽  
Average Birth Weight

Objective: To find out low molecular weight heparin (LMWH) efficacy inlate second trimester oligohydramnios cases. Study Design: Quasi-experimental study. Place and Duration of Study: Combined Military Hospital Malir, from Jan to Jun 2017. Methodology: A total of 30 patients having amniotic fluid index (AFI) <8 on ultrasound scan during their late second trimester phase were enrolled in the study after informed consent. Exclusion criteria included congenital anomalies on U/S, PPROM, and drug-induced oligohydramnios. Personal, medical and obstetric history was obtained for age, parity and co-morbids like hypertension, antiphospholipid syndrome, and previous oligohydramnios. Low molecular weight heparin was started at dose of 0.5mg/kg of body weight subcutaneously for 8-12 weeks and stopped 24 hours prior to delivery. Rescan for amniotic fluid index and fetal bio-metry assessment done every 2 weeks till date of delivery. Fetal outcome in terms of maturity, mode of delivery, birth weight, APGAR score and need for NICU admission were measured. Results: There were 28 live births and two intrauterine deaths. Twelve patients were delivered normally and 18 had elective LSCS. Of twenty eight cases, eight were premature low birth weight (LBW) babies. Twenty six patients showed significant improvement in amniotic fluid index. Average birth weight was 2.5kg. Neonates showed an average APGAR score of 7. Eight neonates admitted in NICU (for prematurity and/or low birth weight) and discharged within a week. Conclusion: Low molecular weight heparin plays significant role in treating oligohydramnios in cases with or without risk factors. However further studies with large sample............

scholarly journals Characterization of carrier females and affected males with X-linked recessive nephrolithiasis.

1995 ◽  
Vol 5 (7) ◽  
pp. 1451-1461 ◽  
Author(s):  
S C Reinhart ◽  
A G Norden ◽  
M Lapsley ◽  
R V Thakker ◽  
J Pang ◽  
...  
Keyword(s):  
Molecular Weight ◽  
Pericentromeric Region ◽  
Research Unit ◽  
Retinol Binding Protein ◽  
Low Molecular Weight ◽  
Disease Genes ◽  
Tubular Dysfunction ◽  
Low Molecular Weight Proteinuria ◽  
Beta 2 ◽  
Beta 2 Microglobulin

X-linked recessive nephrolithiasis (XRN) was described in a large kindred in which nephrolithiasis; proximal tubular dysfunction, proteinuria, nephrocalcinosis, and renal failure occur only in males. Carrier females are asymptomatic, but formal studies of them have not been done. The gene for XRN has been mapped to the pericentromeric region of the X chromosome, close to the loci for several eye disease genes. We studied six affected males, 13 carrier females, and 25 normal members of this family including 7 females whose genetic haplotype predicted them to be carriers. Studies were done in the Clinical Research Unit on a diet containing 400 mg of calcium and 2 g of sodium, and by an additional outpatient urine collection was obtained on a 1-g calcium intake. Hypercalciuria occurred in five of six affected males, 4 of 12 carrier females, and three of seven predicted carriers. Significant proteinuria was present in all affected males and in no other subjects. Low-molecular-weight proteinuria was present in all affected males: the excretion of alpha 1-microglobulin exceeded normal by 3- to 14-fold, of beta 2-microglobulin exceeded normal by 100- to 400-fold, and of retinol-binding protein exceeded normal by 1,000- to 3,000-fold. The excretion of these proteins was less strikingly elevated in carrier females, but the excretion of alpha 1-microglobulin was abnormal in 9 of 15 carriers, beta 2-microglobulin was abnormal in 12 of 15, and retinolbinding protein in was abnormal 12 of 13, and this pattern was similar in predicted carriers. The urinary concentrating ability was abnormal in four affected males with renal insufficiency but normal in all other subjects. Urinary wasting of potassium, phosphorous, and glucose occurred infrequently, and no subject was hypouricemic. Formal ophthalmologic studies were normal in five affected males. Thus, the most consistent urinary abnormalities in XRN are hypercalciuria and low-molecular-weight proteinuria, the latter of which appears to be a marker for the carrier state.

scholarly journals Mutations in CLCN5 chloride channel in Japanese patients with low molecular weight proteinuria.

1998 ◽  
Vol 9 (5) ◽  
pp. 811-818
Author(s):  
T Morimoto ◽  
S Uchida ◽  
H Sakamoto ◽  
Y Kondo ◽  
H Hanamizu ◽  
...  
Keyword(s):  
Molecular Weight ◽  
Chloride Channel ◽  
Expression System ◽  
Hypophosphatemic Rickets ◽  
Low Molecular Weight ◽  
Loss Of Function ◽  
Dent’S Disease ◽  
Clcn5 Gene ◽  
Low Molecular Weight Proteinuria ◽  
Dent's Disease

Mutations in the CLCN5 gene have been demonstrated in three disorders of hypercalciuric nephrolithiasis, i.e., Dent's disease, X-linked recessive nephrolithiasis, and X-linked recessive hypophosphatemic rickets. Recently, a number of Japanese children with low molecular weight proteinuria (LMWP) showing symptoms similar to those shown by patients with Dent's disease in British families have also been reported to have mutations in the CLCN5 gene. The present study examines five unrelated Japanese families with LMWP, two of which lacked any signs other than LMWP, and three of which had several signs other than LMWP, i.e., hypercalciuria, aminoaciduria, hypophosphatemia, and rickets. One nonsense (E118X) and one missense (W22G) mutation were found in three patients in the two families having only LMWP. One genomic deletion including exons 5 to 8 in the CLCN5 gene was found in a patient with hypophosphatemic rickets, and a nonsense mutation (R347X) was found in one patient with LMWP and slight hypercalciuria. No mutations of the exons and exon-intron boundaries in the CLCN5 gene were found in one patient with LMWP, aminoaciduria, and hypokalemia. In addition to the predicted loss of chloride channel function in these nonsense and deletion mutations, the loss of function in the missense mutation W22G was confirmed in the Xenopus oocyte expression system. These results clarified four novel mutations in the CLCN5 genes, and additionally suggested that the loss-of-function mutation of the CLCN5 does not necessarily lead to hypercalciuria and nephrocalcinosis in the early stage of the disease, and that LMWP is an early and essential manifestation of disorders of the CLC-5 chloride channel.

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