On the mechanism of parathyroid hormone stimulation of calcium uptake by mouse distal convoluted tubule cells.

Gesek, F. A.; Friedman, Peter A.

doi:10.1172/jci115947

Cited by 121 publications

(64 citation statements)

References 48 publications

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“…This may lead to vesicle trafficking abnormalities and a primary failure to reabsorb low molecular weight proteins and a secondary failure to reabsorb calcium and other solutes. An alternative mechanism may involve the chloride channels in the distal renal tubule that have been reported to regulate PTH-and calcitonin-mediated calcium reabsorption by increasing chloride conductance (34,35). The PTH-dependent calcium reabsorption, which may be blocked by chloride channel inhibitors (32), is associated with epithelial cell membrane hyperpolarization, and a possible loss of CLC-5 function in these distal tubular cells may perturb the cell membrane polarization response to PTH and thereby affect calcium reabsorption.…”

Section: Discussionmentioning

confidence: 99%

Idiopathic low molecular weight proteinuria associated with hypercalciuric nephrocalcinosis in Japanese children is due to mutations of the renal chloride channel (CLCN5).

Lloyd¹,

Pearce²,

Gunther³

et al. 1997

J. Clin. Invest.

153

112

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The annual urinary screening of Japanese children above 3 yr of age has identified a progressive proximal renal tubular disorder characterized by low molecular weight proteinuria, hypercalciuria, and nephrocalcinosis. The disorder, which has a familial predisposition and occurs predominantly in males, has similarities to three X-linked proximal renal tubular disorders that are due to mutations in the renal chloride channel gene, CLCN5. We have investigated four unrelated Japanese kindreds with this tubulopathy and have identified four different CLCN5 mutations (two nonsense, one missense, and one frameshift). These are predicted to lead to a loss of chloride channel function, and heterologous expression of the missense CLCN5 mutation in Xenopus oocytes demonstrated a 70% reduction in channel activity when compared with the wild-type. In addition, singlestranded conformation polymorphism (SSCP) analysis was found to be a sensitive and specific mutational screening method that detected Ͼ 75% of CLCN5 mutations. Thus, the results of our study expand the spectrum of clinical phenotypes associated with CLCN5 mutations to include this proximal renal tubular disorder of Japanese children. In addition, the mutational screening of CLCN5 by SSCP will help to supplement the clinical evaluation of the annual urinary screening program for this disorder. ( J. Clin. Invest. 1997. 99:967-974.)

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Section: Discussionmentioning

confidence: 99%

Idiopathic low molecular weight proteinuria associated with hypercalciuric nephrocalcinosis in Japanese children is due to mutations of the renal chloride channel (CLCN5).

Lloyd¹,

Pearce²,

Gunther³

et al. 1997

J. Clin. Invest.

153

112

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show abstract

“…Hypercalciuria is defined as urinary excretion in excess of 200 mg of calcium per 24 hours or Urinary calcium excretion greater than 4 mg/kg per 24 hours. In our patient 24 hour urinary calcium excretion was normal (68.08 mg of calcium per twenty four) because of osteomalacia leading to secondary hyperparathyroidism causing reduced urinary calcium (Parathyroid hormone acts at both cortical thick ascending limb of the loop of Henle and distal convoluted tubule in the distal tubule to stimulate calcium reabsorption) [10] balancing out with distal RTA causing increased calcium excretion [11]. We believe that he developed CKD due to recurrent urolithiaisis leading to obstructive uropathy and recurrent UTI.…”

Section: Discussionmentioning

confidence: 68%

Delayed Presentation of Short Bowel Syndrome Complicated with Severe Degree of Nutritional Deficiencies, Nephrocalcinosis and Distal Renal Tubular Acidosis

Herath¹,

Kulatunga²

2017

J Gastrointest Dig Syst

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Background: Short bowel syndrome (SBS) is a malabsorptive state due to functional or anatomic loss of extensive segments of small intestine which can lead to nutritional deficiencies and metabolic disarrangements. Here we describe a young patient with short bowel presenting with severe nutritional deficiencies, nephrocalcinosis and distal renal tubular acidosis. Nephrocalcinosis and distal renal tubular acidosis are closely associated and each can lead to the other. There are only rare case reports of short bowel syndrome complicated with nephrocalcinosis and distal RTA and severe degree of metabolic derangement with nutritional deficiencies. And this case highlights the importance of early management of short bowel syndrome in order to prevent long-term complications.

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“…In the renal failure control group, due to decreasing renal function and a reduction in peritubular blood flow, 99m Tc-DMSA did not accumulate in the kidney and background activity was increased. In patients with proximal tubular dysfunction, such as those with Fanconi syndrome and ITP, the urinary clearance of 99m Tc-DMSA is reportedly increased, resulting in poor renal accumulation of 99m Tc-DMSA and poor background [15, 16, 17, 18]. However, the precise mechanism of the handling of this tracer remains to be determined.…”

Section: Discussionmentioning

confidence: 99%

Poor Renal Accumulation of <sup>99m</sup>Tc-DMSA in Idiopathic Tubular Proteinuria

Suzuki¹,

Suzuki²,

Kume³

et al. 1999

Nephron

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In Japanese patients idiopathic tubular proteinuria presents mainly as asymptomatic tubular low molecular weight proteinuria. This disease has recently been shown to resemble Dent’s disease which is characterized by tubular proteinuria, hypercalciuria, rickets and eventual renal failure. We report on 4 children with idiopathic tubular proteinuria. Although they had normal renal function, as evidenced by serum creatinine or creatinine clearance, they had very poor renal accumulation of ^99mTc-DMSA and the presence of large amounts of tracer in the bladder. Additionally, the patient with the largest amounts of tubular proteinuria had the poorest renal accumulation of the 4 patients. The renal accumulation of tracer decreased with time from a maximum at 10 min after injection. These findings demonstrate that the tracer, once taken to be confined to the proximal tubular cells, is immediately excreted to the tubular lumen. We suggest that poor renal accumulation of ^99mTc-DMSA is very important in elucidating the mechanism of idiopathic tubular proteinuria, and that ^99mTc-DMSA renoscintigraphy is useful in the evaluation of the patient’s renal function over time.

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On the mechanism of parathyroid hormone stimulation of calcium uptake by mouse distal convoluted tubule cells.

Abstract: Clin. Invest. 1992. 749-758.)

Cited by 121 publications

References 48 publications

Idiopathic low molecular weight proteinuria associated with hypercalciuric nephrocalcinosis in Japanese children is due to mutations of the renal chloride channel (CLCN5).

Idiopathic low molecular weight proteinuria associated with hypercalciuric nephrocalcinosis in Japanese children is due to mutations of the renal chloride channel (CLCN5).

Delayed Presentation of Short Bowel Syndrome Complicated with Severe Degree of Nutritional Deficiencies, Nephrocalcinosis and Distal Renal Tubular Acidosis

Poor Renal Accumulation of <sup>99m</sup>Tc-DMSA in Idiopathic Tubular Proteinuria

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