Familial nephrosis, nerve deafness, andhypoparathyroidism

Barakat, Amin J.; D’Albora, James B.; Martin, Malcolm M.; José, Pedro A.

doi:10.1016/s0022-3476(77)80445-9

Cited by 113 publications

(59 citation statements)

References 3 publications

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“…Some of the patients developed renal insufficiency early in life. The autosomal recessive form of hypoparathyroidism with sensorineural deafness and renal tubular dysfunction was detected in two families (8,9). However, the family described in this report showed normal renal imaging and normal renal tubular function.…”

Section: Discussionmentioning

confidence: 53%

Autosomal dominant familial hypoparathyroidism and sensorineural deafness without renal dysplasia

Watanabe

Mochizuki

Kohda

et al. 1998

European Journal of Endocrinology

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Objective: A family is described which has a unique combination of autosomal dominant hypoparathyroidism and sensorineural deafness without renal dysplasia. Case report: The proband was a male infant aged 1 month with episodes of seizures for 20 days. He was born at 35 weeks' gestation without asphyxia, weighing 2040 g. His initial calcium, phosphorus and percentage of tubular reabsorption of phosphorus were 6.8 mg/dl (normal range 8.5-10.5 mg/dl), 8.9 mg/dl (normal range 5.5-7.4 mg/dl) and 96.8% (normal range 85-95%) respectively. He had normal values for serum parathyroid hormone (PTH) and 25-hydroxyvitamin D. No abnormalities were found by renal imaging and a routine renal function study. He showed a brisk plasma cAMP increase in response to human PTH-(1-34) infusion. He had normal karyotype 46, XY, without a microdeletion in chromosome 22q11.2 by an in situ hybridization method. Five family members were affected with hypoparathyroidism with sensorineural deafness with autosomal dominant transmission. The study of calcium-sensing receptor and preproPTH gene showed a normal DNA sequence. Conclusion:The combination of familial hypoparathyroidism with sensorineural deafness without renal dysplasia is novel and the cause may be distinct from previously reported familial hypoparathyroidism with sensorineural deafness and renal dysplasia.

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Section: Discussionmentioning

confidence: 53%

Autosomal dominant familial hypoparathyroidism and sensorineural deafness without renal dysplasia

Watanabe

Mochizuki

Kohda

et al. 1998

European Journal of Endocrinology

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“…Hearing loss in combination with hypoparathyroidism and renal dysplasia was first described in patients in 1977 (10). Hasegawa et al (11) …”

Section: Discussionmentioning

confidence: 99%

HDR Syndrome (Hypoparathyroidism, Sensorineural Deafness and Renal Disease) Accompanied by Renal Tubular Acidosis and Endocrine Abnormalities

et al. 2008

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“…72 as rCs is inherited in an autosomal dominant manner, individuals from families with an identified mutation or probands can be tested by sequence analysis HDr dysplasia syndrome Hypoparathyroidism-deafness-renal dysplasia (HDr) syndrome includes the association of hypoparathyroidism, sensorineural deafness and renal disease, including vur. 76,77 the majority of cases of HDr syndrome have been mapped to chromosome 10p, particularly mutations of the GATA3 gene, which encodes the trans-acting t-cell-specific transcription factor Gata-3 protein, and is found at this locus. [78][79][80] it is now widely recognized that HDr is an autosomal dominant disorder caused by mutations of GATA3.…”

Section: Syndromes Associated With Vur In Humansmentioning

confidence: 99%

Genetics of vesicoureteral reflux

et al. 2011

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| Primary vesicoureteral reflux (VUR) is the most common urological anomaly in children, affecting 1-2% of the pediatric population and 30-40% of children presenting with urinary tract infections (UTIs). Refluxassociated nephropathy is a major cause of childhood hypertension and chronic renal failure. The hereditary and familial nature of VUR is well recognized and several studies have reported that siblings of children with VUR have a higher incidence of reflux than the general pediatric population. Familial clustering of VUR implies that genetic factors have an important role in its pathogenesis, but no single major locus or gene for VUR has yet been identified and most researchers now acknowledge that VUR is genetically heterogeneous. Improvements in genome-scan techniques and continuously increasing knowledge of the genetic basis of VUR should help us to further understand its pathogenesis.

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Familial nephrosis, nerve deafness, andhypoparathyroidism

Cited by 113 publications

References 3 publications

Autosomal dominant familial hypoparathyroidism and sensorineural deafness without renal dysplasia

Autosomal dominant familial hypoparathyroidism and sensorineural deafness without renal dysplasia

HDR Syndrome (Hypoparathyroidism, Sensorineural Deafness and Renal Disease) Accompanied by Renal Tubular Acidosis and Endocrine Abnormalities

Genetics of vesicoureteral reflux

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