Case of hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome associated with nephrocalcinosis and distal renal tubular acidosis

Kato, Yukio; Wada, Naoki; Numata, Atsushi; Κakizaki, Hidehiro

doi:10.1111/j.1442-2042.2007.01756.x

Cited by 19 publications

(19 citation statements)

References 10 publications

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“…Hearing loss is usually bilateral (but may be asymmetric) and may range from mild to profound impairment, being more severe at the higher end of the frequency spectrum. Renal diseases in these patients include nephrotic syndrome, cystic kidney, renal dysplasia, hypoplasia or aplasia, pelvicalyceal deformity, vesicoureteral reflux, chronic renal failure, hematuria, proteinuria, and renal scarring [1, 2, 11, 15–17]. However, most patients show progression to chronic renal failure and require renal replacement therapy [4].…”

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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“…The renal disorders seen in this syndrome can be in various forms such as renal agenesis, renal dysplasia, hypoplasia, vesicoureteral reflux (9), and renal tubular acidosis (10,11). Many patients progress to chronic renal failure (10).…”

Section: Discussionmentioning

confidence: 99%

Hypoparathyroidism, Deafness, and Renal Dysplasia

Civan¹

2014

Acta Endo (Buc)

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Background. HDR syndrome is an autosomal dominant disorder characterized by hypoparathyroidism, sensorineural deafness, and renal dysplasia caused by mutation of the GATA3 gene.Case report. We describe a case of HDR syndrome diagnosed in a 46-yearold male patient. He had hand numbness, intermittent dizziness, and imbalance due to hypocalcemia. Physical examination was slim in appearance, had marfanoid features, and presented the typical apathetic face. He had a narrow rib cage and pectus excavatum deformity. Laboratory findings included serum calcium of 7.4 mg/dL, phosphorus of 4.87 mg/dL, albumin of 4.5 g/dL, intact parathormone (iPTH) of 13.3 pg/mL, 25(OH) D3 vitamin of 16.3 µg/L, daily urinary calcium excretion of 23.4 mg/day. Noncontrast computerized tomography (CT) of the brain showed bilateral basal ganglia calcification. Abdominal ultrasonography and CT showed the absence of renal tissue in the left kidney site and pelvis (left renal aplasia). Audiometry revealed mild sensorineural hearing loss at high frequencies.Conclusions. The patients with HDR syndrome are often diagnosed when they are examined for symptomatic hypoparathyroidism and deafness. To the best our knowledge, the present case is the second case of Barakat Syndrome reported from Turkey. The treatment of HDR syndrome is focused on clinical symptoms. The prognosis of the disease correlates with hypoparathyroidism and the severity of renal disease. HDR syndrome has an autosomaldominant inheritance, screening of family members is recommended for early diagnosis and treatment.

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“…However, not all patients with HDR syndrome exhibit all these manifestations; other clinical manifestations are evident in some cases,5 6 as the syndrome is correlated with secondary clinical signs such as micrognathia, dental absence and coarse skin; emotional and mental symptoms are also observed, with patients manifesting depressive symptoms and agitation. It should be noted that our patient displayed irritability.…”

Section: Discussionmentioning

confidence: 99%

“…In the case of the young patient from the United Arab Emirates, a heterozygous deletion of two nucleotides in exon 2 of GATA3 was observed. Two patients suffering from HDR syndrome and renal tubular acidosis5 10 have been described, one of whom had hypergonadotrophic hypogonadism and autoimmune thyroiditis 10…”

Section: Discussionmentioning

confidence: 99%

Vitamin D deficiency in a patient with HDR syndrome

Kostoglou-Athanassiou

Stefanopoulos

Karfi

et al. 2015

BMJ Case Reports

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The case of a patient with clinical symptoms, laboratory and imaging findings of hypoparathyroidism, sensorineural deafness, renal dysplasia HDR, or Barakat syndrome (hypoparathyroidism, deafness, renal dysplasia), and vitamin D deficiency, is presented. A Caucasian man aged 51 years with a history of chronic hypocalcaemia since childhood, was admitted with hypertonia of the body and extremities, and loss of consciousness. On admission, he was found to have severe hypocalcaemia, hyperphosphataemia, severe hypoparathyroidism, low serum magnesium and mild renal insufficiency. Calcium gluconate was administered intravenously supplemented with magnesium, and the patient recovered consciousness while clinical and laboratory findings improved. Evaluation revealed left renal aplasia and sensorineural deafness affecting both ears. Vitamin D deficiency was also present. He was given calcium and vitamin D supplements orally, and the hypocalcaemia was corrected. This case is described as it is an extremely rare case of HDR syndrome with concurrent vitamin D deficiency.

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Case of hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome associated with nephrocalcinosis and distal renal tubular acidosis

Cited by 19 publications

References 10 publications

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

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

Hypoparathyroidism, Deafness, and Renal Dysplasia

Vitamin D deficiency in a patient with HDR syndrome

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