HDR Syndrome Accompanying Type 1 Diabetes Mellitus and Hypopituitarism

被引：0

作者：

Can, Mustafa ^{[1
]}

Karakurt, Feridun ^{[1
]}

Kocabas, Muhammed ^{[1
]}

Cordan, Ilker ^{[1
]}

Karakose, Melia ^{[1
]}

Kulaksizoglu, Mustafa ^{[1
]}

机构：

[1] Necmettin Erbakan Univ, Meram Sch Med, Dept Endocrinol & Metab, Konya, Turkey

来源：

CASE REPORTS IN ENDOCRINOLOGY | 2019年 / 2019卷

关键词：

RENAL DYSPLASIA SYNDROME; SENSORINEURAL DEAFNESS; SYNDROME HYPOPARATHYROIDISM; DE-NOVO; PATIENT; GATA3; DIAGNOSIS; MUTATION; GIRL;

D O I：

10.1155/2019/7276947

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

HDR (Hypoparathyroidism, Deafness, and Renal Dysplasia) syndrome is an autosomal dominant disorder characterized by the triad of hypoparathyroidism, sensorineural deafness, and renal disease. Approximately 65% of patients with HDR syndrome have all three of these features, while others have different combinations of these features. We aimed to present a case with primary hypoparathyroidism, hearing loss, and nondiabetic chronic kidney disease and diagnosed as HDR syndrome while being followed up for type 1 diabetes mellitus and hypopituitarism.

引用

页数：4

共 24 条

[1] HDR (hypoparathyroidism, sensorineural deafness, renal dysplasia) syndrome presenting with hypocalcemia-induced generalized psoriasis
Aksoylar, S
Aydinok, Y
Serdaroglu, E
Çoker, M
Özdemir, F
Özkinay, F
[J]. JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 2004, 17 (07) : 1031 - 1034
[2] FAMILIAL NEPHROSIS, NERVE DEAFNESS, AND HYPOPARATHYROIDISM
BARAKAT, AY
DALBORA, JB
MARTIN, MM
JOSE, PA
[J]. JOURNAL OF PEDIATRICS, 1977, 91 (01) : 61 - 64
[3] AUTOSOMAL DOMINANT FAMILIAL HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA
BILOUS, RW
MURTY, G
PARKINSON, DB
THAKKER, RV
COULTHARD, MG
BURN, J
MATHIAS, D
KENDALLTAYLOR, P
[J]. NEW ENGLAND JOURNAL OF MEDICINE, 1992, 327 (15) : 1069 - 1074
[4] Rare case of nephrocalcinosis in a 14-year-old girl: Questions and Answers
Bjanid, Omar
Adamczyk, Piotr
Stojewska, Magorzata
Roszkowska-Bjanid, Dagmara
Paszyna-Grzeskowiak, Magdalena
Jedzura, Agnieszka
Oswiecimska, Joanna
Ziora, Katarzyna
Morawiec-Knysak, Aurelia
Szczepanska, Maria
[J]. PEDIATRIC NEPHROLOGY, 2017, 32 (04) : 607 - +
[5] HDR Syndrome: A Novel "de novo" Mutation in GATA3 Gene
Ferraris, Silvio
Del Monaco, Angelo Giovanni
Garelli, Emanuela
Carando, Adriana
De Vito, Barbara
Pappi, Patrizia
Lala, Roberto
Ponzone, Alberto
[J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2009, 149A (04) : 770 - 775
[6] Fujimoto S, 1999, AM J MED GENET, V86, P427, DOI 10.1002/(SICI)1096-8628(19991029)86:5<427::AID-AJMG6>3.0.CO
[7] 2-I
[8] A Case of HDR Syndrome and Ichthyosis: Dual Diagnosis by Whole-Genome Sequencing of Novel Mutations in GATA3 and STS Genes
Goodwin, Gregory
Hawley, Pamela P.
Miller, David T.
[J]. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2016, 101 (03) : 837 - 840
[9] Hasegawa T, 1997, AM J MED GENET, V73, P416, DOI 10.1002/(SICI)1096-8628(19971231)73:4<416::AID-AJMG9>3.0.CO
[10] 2-L

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