Siblings with renal tubular acidosis and nerve deafness. The first family in Japan

Anai, Takanobu; Yamamoto, Jiro; Matsuda, Ichiro; Taniguchi, Naoki; Kondo, Takahito; Nagai, Bunsaku

doi:10.1007/bf00286618

Cited by 9 publications

(6 citation statements)

References 19 publications

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“…The earliest clinical reports on this disease appeared in the mid‐1930s (18, 19) in London and more clearly in the 1960s in Paris (20, 21). These and subsequent reports described the clinical aspects of familial, recessive dRTA with sensorineural deafness that include failure to thrive and vomiting, nephrocalcinosis with nephrolithiasis, delayed rickets, and hypokalemic muscle paresis (22–26). The turning point for the understanding of the pathophysiology of this group of disorders came in the late 1990s with the outstanding work on molecular genetics by Karet et al (3, 6) that linked this disease to mutations in the ATP6V1B1 gene on chromosome 2q13.…”

Section: Discussionmentioning

confidence: 97%

Molecular investigation and long‐term clinical progress in Greek Cypriot families with recessive distal renal tubular acidosis and sensorineural deafness due to mutations in the ATP6V1B1 gene

et al. 2006

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The spectrum of distal renal tubular acidosis (dRTA) includes a genetically heterogeneous group of inherited conditions of both autosomal-dominant and recessive mode of inheritance. The basic defect is linked to the renal part of acid-base homeostasis, which is partly achieved by the regulated luminal secretion of H+ at the apical surface of the alpha-intercalated cells of renal collecting ducts. This is coupled to bicarbonate reabsorption with chloride counter transport across the basolateral membranes. Here, we describe the molecular findings of the first two Greek Cypriot families with recessive dRTA and the long-term clinical findings in four of five affected members. DNA linkage analysis with four polymorphic markers flanking the ATP6V1B1 gene on chromosome 2 gave evidence for positive linkage; direct DNA analysis by automated DNA sequencing revealed that patients in one family were homozygous for mutation 229+1G>T (IVS7+1G>T) and that patients in the second family were compound heterozygous for 229+1G>T and R157C. The mutations were found on four different haplotypes. Both the mutations were previously reported in patients of Turkish origin. Three known polymorphic variants were also identified. The five patients demonstrated the whole clinical spectrum of the disease including death in infancy, failure to thrive, rickets, nephrocalcinosis, nephrolithiasis, and episodes of hypokalemic paralysis. Some of the family members are now in their mid 30s and late 20s, and nephrolithiasis with recurrent renal colics is their main problem. Renal function has remained normal. In conclusion, early diagnosis in infancy and prompt treatment with alkali and potassium supplements is of great benefit to the patient with dRTA and ensures normal growth. The identification of responsible mutations facilitates antenatal or postnatal diagnosis in concerned families and improves the prognosis.

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Section: Discussionmentioning

confidence: 97%

Molecular investigation and long‐term clinical progress in Greek Cypriot families with recessive distal renal tubular acidosis and sensorineural deafness due to mutations in the ATP6V1B1 gene

et al. 2006

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“…Treatment with prostaglandin synthetase inhibitors, mainly indomethacin, with or without potassium supplements or potassium sparing diuretics, has been shown to be effective in this disorder [Bommen and Brook 1982;Seyberth et al, 1985;Matsumoto et al, 19891. Sensorineural deafness (SND) has been described in association with various congenital renal diseases. These include glomerular diseases, such as Alport syndrome, in which SND is typically a late phenomenon [Gubler et al, 19811, and several tubular disorder, including: familial distal renal tubular acidosis [Dunger et al, 1980;Anai et al, 1984;Bentur et al, 1989;Caldas et al, 19921, pseudohypoaldosteronism [Tungland et al, 19901, Fanconi syndrome [Chevalier, 19831 and others [Kobayashi et al, 1985;Goto et al, 19901. SND in these cases manifests itself early in life, potentially impairing language development.…”

Section: Introductionmentioning

confidence: 99%

Infantile variant of Bartter syndrome and sensorineural deafness: A new autosomal recessive disorder

et al. 1995

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The infantile variant of Bartter syndrome (IBS) is usually associated with maternal polyhydramnios, premature birth, postnatal polyuria and hypokalemic hypochloremic metabolic alkalosis and a typical appearance. IBS is thought to be an autosomal recessive trait. Several congenital tubular defects are associated with sensorineural deafness (SND). However, an association between the IBS and SND has not been reported so far. Here we describe 5 children of an extended consanguineous Bedouin family with IBS and SND. In 3 of the cases, the typical electrolyte imbalance and facial appearance were detected neonatally. SND was detected as early as age 1 month, suggesting either coincidental homozygotization of 2 recessive genes or a pleiotropic effect of one autosomal recessive gene. This association suggests that evaluation of SND is warranted in every case of IBS.

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“…A review of other studies supports an autosomal recessive mode of transmission, since most but not all of the cases had a history of consanguinity (58,59). Hypokalemia, nephrocalcinosis, rickets, or osteopetrosis was seen in the majority of cases.…”

Section: Renal Tubular Acidosis and Deafnessmentioning

confidence: 85%

“…An inactive mutant form of carbonic anhydrase B (CAI) was observed by Shapira et al in the erythrocytes of three of four affected children (62). Anai et al reported a normal range of specific activity of CAI and CAII in the erythrocytes of two patients with RTA and deafness (58), and Yoshimura et al also found normal CAII activity (63). This suggests that a defect other than CAII deficiency could cause deafness in some patients with hereditary dRTA.…”

Section: Renal Tubular Acidosis and Deafnessmentioning

confidence: 93%

Hereditary Distal Renal Tubular Acidosis: New Understandings

et al. 2001

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The primary or hereditary form of distal renal tubular acidosis (dRTA), although rare, has received increased attention recently because of dramatic advances in the understanding of its genetic basis. The final regulation of renal acid excretion is effected by various acid/base transporters localized in specialized cells in the cortical collecting and outer medullary collecting tubules. Inherited defects in two of the key acid/base transporters involved in distal acidification, as well as mutations in the cytosolic carbonic anhydrase gene, can cause dRTA. The syndrome is inherited in both autosomal dominant and recessive patterns; patients with recessive dRTA present with either acute illness or growth failure at a young age, sometimes accompanied by deafness, whereas dominant dRTA is usually a milder disease and involves no hearing loss. The AE1 gene encodes two Cl-/HCO3- exchangers that are expressed in the erythrocyte and in the acid-secreting intercalated cells of the kidney. AE1 contributes to urinary acidification by providing the major exit route for HCO3- across the basolateral membrane. Several mutations in the AE1 gene cosegregate with dominant dRTA. The modest degree of hypofunction exhibited in vitro by these mutations, however, does not explain the abnormal distal acidification phenotype. Other AE1 mutations have been linked to a recessive syndrome of dRTA and hemolytic anemia in which hypofunction can be discerned by in vitro studies. Several mutations in the carbonic anyhdrase II gene are associated with the autosomal recessive syndrome of osteopetrosis, renal tubular acidosis, and cerebral calcification. Some of these individuals present with deafness of the conductive type. By contrast, more recent studies have shown that mutations in ATP6B1, encoding the B-subtype unit of the apical H(+) ATPase, are responsible for a group of patients with autosomal recessive dRTA associated with sensorineural deafness. Thus, the presence of deafness and the type provide an important clue to the genetic lesion underlying hereditary dRTA.

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Siblings with renal tubular acidosis and nerve deafness. The first family in Japan

Cited by 9 publications

References 19 publications

Molecular investigation and long‐term clinical progress in Greek Cypriot families with recessive distal renal tubular acidosis and sensorineural deafness due to mutations in the ATP6V1B1 gene

Molecular investigation and long‐term clinical progress in Greek Cypriot families with recessive distal renal tubular acidosis and sensorineural deafness due to mutations in the ATP6V1B1 gene

Infantile variant of Bartter syndrome and sensorineural deafness: A new autosomal recessive disorder

Hereditary Distal Renal Tubular Acidosis: New Understandings

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