Medullary sponge kidney associated with primary distal renal tubular acidosis and mutations of the H+-ATPase genes

Carboni, Ilaria; Andreucci, Elena; Caruso, Maria Rosa; Ciccone, Roberto; Zuffardi, Orsetta; Genuardi, Maurizio; Pela, Ivana; Giglio, Sabrina

doi:10.1093/ndt/gfp160

Cited by 32 publications

(20 citation statements)

References 21 publications

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“…The risk of stone formation is a result of a combination of anatomical defects (ectasia and cystic dilatations of precalyceal ducts) and biochemical ones (typically hypocitraturia, increased urinary pH and hypercalciuria). Two patients with MSK together with distal renal tubular acidosis and sensorineural deafness were found to have mutations in ATP6V1B1 and ATPV0A4 , encoding subunits of the H + -ATPase proton pump [23]. MSK may also be part of other congenital syndromes such as the Beckwith-Wiedemann syndrome (table 1).…”

Section: Inherited Diseases Leading To Structural Abnormalities Of Thmentioning

confidence: 99%

Renal Stone Disease

Sayer¹

2010

Nephron Physiol

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Background/Aims: Renal stone disease may be seen as a clinical symptom of an underlying pathological process predisposing to crystallization within the renal tract. Renal stones may be comprised of calcium salts, uric acid, cystine and various other insoluble complexes. Nephrolithiasis may be the manifestation of rare single gene disorders or part of more common idiopathic renal stone-forming diseases. Methods and Results: Molecular genetics has allowed significant progress to be made in our understanding of certain stone-forming conditions. The molecular defect underlying single gene disorders often contributes to a significant metabolic risk factor for stone formation. In contrast, idiopathic renal stone formation relates to the interplay of environmental, dietary and genetic factors, with hypercalciuria being the most commonly found metabolic risk factor. Candidate genes for idiopathic stone formers have been identified using numerous approaches, some of which are outlined here. Despite this, the genetic basis underlying familial hypercalciuria and calcium stone formation remains elusive. The molecular basis of other metabolic risk factors such as hyperuricosuria, hyperoxaluria and hypocitraturia is being unraveled and is allowing new insights into renal stone pathogenesis. Conclusion: The discovery of both rare and common molecular defects leading to renal stones will hopefully increase our understanding of the disease pathogenesis. Such knowledge will allow screening for genetic defects and the use of specific drug therapies in order to prevent renal stone formation.

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Section: Inherited Diseases Leading To Structural Abnormalities Of Thmentioning

confidence: 99%

Renal Stone Disease

Sayer¹

2010

Nephron Physiol

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“…Next, children and adults with familial hypomagnesaemia-hypercalciuria, a rare condition in which dRTA is a component, had UTIs in 3 of 4 subjects (75%) and 10 of 18 subjects (55%) in case series (34,35). Finally, in a case series of patients with medullary sponge, a condition associated with dRTA, 14 of 21 female patients (67%) and 4 of 26 of male patients (15%) presented with bacteriuria (7,19 …”

Section: Discussionmentioning

confidence: 97%

Carbonic anhydrase 2 deficiency leads to increased pyelonephritis susceptibility

Chen

Saxena

Barr-Beare

et al. 2014

American Journal of Physiology-Renal Physiology

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“…[4] The acidification defects are generally attributed secondary to the abnormal electrolyte transport resulting from the anatomic defects; but there are recent reports of occurrence of primary distal RTA in MSK as a result of H + ATPase mutations. [5] Excretory urography remains the corner stone of diagnosis. The classic appearance varies from papillary blush resulting from collections of contrast medium in ectatic papillary ducts in mild cases, linear striations and bouquets of flowers in full-fledged cases.…”

Section: Discussionmentioning

confidence: 99%

Medullary sponge kidney and isolated hemihyperplasia

et al. 2014

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The term hemihyperplasia refers to an enlargement of body parts beyond the normal asymmetry. Hemihyperplasia can be isolated or associated with various well-described malformation syndromes. Medullary sponge kidney (MSK) has been described with isolated and syndromic hemihyperplasia; the actual prevalence is not known The hemi hypertrophy can be so subtle that it may be easily overlooked. MSK need not be limited to the side of hemihyperplasia – most often it is bilateral. Around 33 cases has been reported from different parts of the world of which 15 cases are isolated hemi hyperplasia (IHH), the remaining occurring in the context of various malformation syndromes So far only one case has been reported from India. We report a case of IHH involving right side of the body, recurrent renal stones, incomplete distal renal tubular acidosis hypercalciuria and imaging showing bilateral MSKs.

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Medullary sponge kidney associated with primary distal renal tubular acidosis and mutations of the H+-ATPase genes

Abstract: These observations, including a previous description of a similar case in the literature, indicate that MSK could be a consequence of the proton pump defect, thus can potentially provide new insights into the pathogenesis of MSK.

Cited by 32 publications

References 21 publications

Renal Stone Disease

Renal Stone Disease

Carbonic anhydrase 2 deficiency leads to increased pyelonephritis susceptibility

Medullary sponge kidney and isolated hemihyperplasia

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