Autosomal dominant familial hypoparathyroidism and sensorineural deafness without renal dysplasia

Watanabe, Tomoyuki; Mochizuki, Hidetaka; Kohda, Naoya; Minamitani, Kanshi; Minagawa, Masahiro; Yasuda, Toshiyuki; Niimi, Hiroo

doi:10.1530/eje.0.1390631

Cited by 14 publications

(3 citation statements)

References 6 publications

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“…Detailed study of chromosome 10p should be undertaken in patients with well-defined renal tract abnormality phenotypes, especially when there is associated hypoparathyroidism or deafness [3]. Various combinations of this syndrome have been reported including familial idiopathic hypoparathyroidism and progressive sensorineural deafness without renal disease [6, 8] and autosomal recessive hypoparathyroidism with renal insufficiency and developmental delay [5]. Treatment consists of treating the clinical abnormalities associated with hypoparathyroidism, deafness, and renal disease at the time of diagnosis.…”

Section: Discussionmentioning

confidence: 99%

Seizure, Deafness, and Renal Failure: A Case of Barakat Syndrome

Maleki

Bashardoust

Alamdari

et al. 2013

Case Reports in Nephrology

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Barakat syndrome (also known as HDR syndrome) is an autosomal dominant disorder characterized by hypoparathyroidism, sensorineural deafness, and renal disease caused by mutation of the GATA3 gene located at chromosome 10p15. The exact prevalence of this disorder is not known but is very rare, with only about a dozen cases reported in the literature. Here, we report a case of 58-year-old man from Ardabil who presented with seizure due to hypocalcemia. Further history revealed bilateral deafness. Audiogram confirmed sensorineural hearing loss of both sides. His laboratory data were consistent with hypoparathyroidism and renal failure. He was diagnosed to have Barakat syndrome based on his clinical and laboratory data. In conclusion, we need to be aware of rare inherited conditions in a patient with abnormal physical and laboratory findings even though their initial presentation was seizure and hypocalcemia.

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Section: Discussionmentioning

confidence: 99%

Seizure, Deafness, and Renal Failure: A Case of Barakat Syndrome

Maleki

Bashardoust

Alamdari

et al. 2013

Case Reports in Nephrology

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“…Their location within the CaSR gene is variable as 14 are localized in the extracellular domain (Pollak et al 1994, Baron et al 1996, Pearce et al 1996, De Luca et al 1997, Mancilla et al 1998, Okazaki et al 1999, Conley et al 2000, Hendy et al 2000, Tan et al 2003, six in the transmembrane helixes (Baron et al 1996, De Luca et al 1997, Watanabe et al 1998a, Hendy et al 2000 and two in the extracellular loops within the transmembrane domain (Baron et al 1996, Hendy et al 2000. Although some authors have pointed out that mutations in the transmembrane helixes might produce more severe hypocalcemia than those present in the extracellular domain (Watanabe et al 1998b), no significant relationship has been further demonstrated between mutation location and penetrance of the mutation. The Glu 604 Lys-activating mutation lies in the Cys-rich domain of the extracellular head, which seems to be required for the coupling of ligand binding to the activation of intracellular signaling pathways (Hu et al 2000).…”

Section: Discussionmentioning

confidence: 99%

A novel mutation in the calcium-sensing receptor responsible for autosomal dominant hypocalcemia in a family with two uncommon parathyroid hormone polymorphisms

Alvarez-Hernandez¹,

Santamaría²,

Rodríguez‐García³

et al. 2003

Journal of Molecular Endocrinology

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A novel missense activating mutation in the extracellular calcium-sensing receptor (CaSR) is reported in this work. It was identified in three related subjects with the phenotypic features of autosomal dominant hypocalcemia (ADH). The proband, a 27-year-old woman, diagnosed as having hypoparathyroidism at 7 years of age and a history of seizures, showed the highest penetrance of the mutation. The remaining two affected members presented asymptomatic chronic hypocalcemia despite severe hypoparathyroidism associated with high levels of serum phosphate and calcium urinary excretion. The missense mutation (Glu 604 Lys) affected an amino acid residue in the C terminus of the cysteine-rich domain of the extracellular amino-terminal domain, which seems to be required for the coupling of ligand binding to the activation of intracellular signaling pathways. This genetic change cosegregated with hypocalcemia in all the individuals where the mutation was found. As parathyroid hormone (PTH) secretion is the regulatory target of the CaSR, polymorphism analysis of the PTH gene was carried out. PTH polymorphisms were analyzed in the kindred studied. Affected members for the Glu 604 Lys CaSR mutation which also carried the uncommon PTH alleles showed higher penetrance of the mutation, with more severe autosomal dominant hypocalcemia. These results suggested that the PTH gene could act as a modifier locus of ADH, affecting the penetrance of the activating CaSR mutation described.

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“…Hormone levels typically decrease to normal range (15-50 pg/mL) [9] within 10 minutes after removing the abnormal gland ( Fig. 1).…”

Section: Preoperative Localisation Of Hyperfunctioning Parathyroid Glandmentioning

confidence: 99%

Od preparowania czterogruczołowego do technik małoinwazyjnych. Małoinwazyjna paratyroidektomia jako obecny standard chirurgii pierwotnej nadczynności przytarczyc

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Stróżyk

Proczko-Markuszewska

et al. 2014

Endokrynologia Polska

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Complete surgical resection of hyperfunctioning parathyriod tissue is essential for the treatment of primary hyperparathyroidism. During recent years, minimally invasive surgery has been successfully applied in neck exploration, because of significant developments of guidance by intraoperative scans, the use of quick, intraoperative PTH assay, and also preoperative imaging procedures such as highresolution ultrasonography and sestamibi scintigraphy. The results of operations which are performed with minimally invasive techniques are comparable to those of conventional surgery, and provide advantages with regard to cosmetic result, length of hospitalisation, and reduced post-operative pain. StreszczenieCałkowite chirurgiczne usunięcie nadczynnej tkanki gruczołowej jest kluczowe dla leczenia pierwotnej nadczynności przytarczyc. Podczas ostatnich lat, techniki chirurgii małoinwazyjnej były z sukcesem wprowadzane do preparowania tkanek szyi. Było to możliwe dzięki opracowaniu śródoperacyjnych metod lokalizowania zmienionej tkanki, szybkim testom oznaczającym stężenie PTH w surowiczy, jak również doskonaleniu technik obrazowania przedoperacyjnego, takich jak ultrasonografia wysokiej rozdzielczości czy scyntygrafia z wykorzystaniem sestamibi. Wyniki operacji z wykorzystaniem technik małoinwazyjnych są porównywalne z wynikami technik konwencjonalnych oraz wiążą się z zaletami, takimi jak skrócony okres hospitalizacji, zmniejszenie bólu pooperacyjnego czy lepszy efekt kosmetyczny. (Endokrynol Pol 2014; 65 (3): 240-249) Słowa kluczowe: pierwotna nadczynność przytarczyc; konwencjonalne preparowanie tkanek szyi; minimalnie inwazyjna parathyroidectomia

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Autosomal dominant familial hypoparathyroidism and sensorineural deafness without renal dysplasia

Cited by 14 publications

References 6 publications

Seizure, Deafness, and Renal Failure: A Case of Barakat Syndrome

Seizure, Deafness, and Renal Failure: A Case of Barakat Syndrome

A novel mutation in the calcium-sensing receptor responsible for autosomal dominant hypocalcemia in a family with two uncommon parathyroid hormone polymorphisms

Od preparowania czterogruczołowego do technik małoinwazyjnych. Małoinwazyjna paratyroidektomia jako obecny standard chirurgii pierwotnej nadczynności przytarczyc

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