Familial absorptive hypercalciuria and renal tubular acidosis

Hamed, Isam A.; Czerwinski, Anthony W.; Coats, Bard; Kaufman, C. Erick; Altmiller, Dale H.

doi:10.1016/0002-9343(79)90783-6

Cited by 31 publications

(9 citation statements)

References 19 publications

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“…Our own study of nine families (19) (Figure 2) suggests an autosomal dominant inheritance. Other studies have confirmed ours (20,21). As expected, hypercalciuria can be detected among children at the same rate as in adults (22).…”

Section: Etiologysupporting

confidence: 87%

Nephrolithiasis and Nephrocalcinosis

Parks¹,

Coe²

1998

Suki and Massry’s THERAPY OF RENAL DISEASES AND RELATED DISORDERS

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Section: Etiologysupporting

confidence: 87%

Nephrolithiasis and Nephrocalcinosis

Parks¹,

Coe²

1998

Suki and Massry’s THERAPY OF RENAL DISEASES AND RELATED DISORDERS

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“…The acidosis may be unmasked by stressing with ammonium chloride. It has also been suggested that in some instances, primary hyperabsorptive hypercalciuria may lead to RTA as a secondary phenomenon [49] . The syndrome can also be acquired by long-term use of amphotericin B [50] .…”

Section: Autosomal Dominant Distal Renal Tubular Acidosismentioning

confidence: 99%

A Practical Approach to Vitamin D Deficiency and Rickets

Allgrove

Shaw

2015

Calcium and Bone Disorders in Children and Adolescents

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Rickets is a condition in which there is failure of the normal mineralisation (osteomalacia) of growing bone. Whilst osteomalacia may be present in adults, rickets cannot occur. It is generally caused by a lack of mineral supply, which can either occur as a result of the deficiency of calcium (calciopaenic rickets, now known as parathyroid hormone-dependent rickets) or of phosphate (phosphopaenic rickets, now called FGF23-dependent rickets). Renal disorders may also interfere with the process of mineralisation and cause rickets. Only parathyroid hormone-dependent rickets and distal renal tubular disorders will be discussed in this chapter. The most common cause of rickets is still vitamin D deficiency, which is also responsible for other problems. Disorders of vitamin D metabolism or responsiveness may also cause similar issues. Distal renal tubular acidosis may also be caused by a variety of metabolic errors similar to those of osteoclasts. One form of distal renal tubular acidosis also causes a type of osteopetrosis. This chapter describes these conditions in detail and sets out a logical approach for treatment.

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“…Hypercalciuria can result from a systemic acidosis, if present, although idiopathic hypercalciuria is common and in many cases it may exist as a compounding independent trait (presumably in addition to the dRTA [ 180 ] ). In fact, in certain individuals, it has been proposed that hypercalciuria is a cause of a secondary dRTA, perhaps because nephrocalcinosis damages distal tubules [ 180,185,186 ] . An incomplete form of proximal RTA has also been described in patients with hypercalciuria and stone disease, characterized by abnormal bicarbonaturia in response to a bicarbonate load [ 187 ] .…”

Section: Calcium Phosphate Stones and Renal Tubular Acidosismentioning

confidence: 99%