Early onset hearing loss in autosomal recessive hypophosphatemic rickets caused by loss of function mutation in ENPP1
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Elisabeth Steichen-Gersdorf
,
Bettina Lorenz-Depiereux
Abstract
Autosomal recessive hypophosphatemic rickets 2 (ARHR2) is a rare form of renal tubular phosphate wasting disorder. Loss of function mutations of the ecto-nucleotide pyrophosphatase/pyrophosphodiesterase 1 gene (ENPP1) causes a wide spectrum of phenotypes, ranging from lethal generalized arterial calcification of infancy to hypophosphatemic rickets with hypertension. Hearing loss was not previously thought to be one of the features of the disease entities and was merely regarded as a complication rather than a part of the disease. We report two children who presented in mid to late childhood with progressive varus deformity of their legs due to hypophosphatemic rickets caused by mutations in the ENPP1 gene. Both children had evidence of progressive hearing loss requiring the use of hearing aids. This report of two unrelated infants with compound heterozygous mutations in ENPP1 and previously published cases confirms that mild to moderate hearing loss is frequently associated with ARHR2. Early onset conductive hearing loss may further distinguish the autosomal recessive ENPP1 related type from other types of hypophosphatemia.
References
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©2015 by De Gruyter
Artikel in diesem Heft
- Frontmatter
- Highlight: Thyroid
- Thyroid disorders revisited
- Genetic analysis of the paired box transcription factor (PAX8) gene in a cohort of Polish patients with primary congenital hypothyroidism and dysgenetic thyroid glands
- Prognostic factors in pediatric differentiated thyroid cancer patients with pulmonary metastases
- Reclassification of cytologically atypical thyroid nodules based on radiologic features in pediatric patients
- Evaluation of inflammatory and oxidative biomarkers in children with well-controlled congenital hypothyroidism
- Investigation of autoimmune diseases accompanying Hashimoto’s thyroiditis in children and adolescents and evaluation of cardiac signs
- Neonatal thyroid storm accompanied with severe anaemia
- Functional characterization of the novel sequence variant p.S304R in the hinge region of TSHR in a congenital hypothyroidism patients and analogy with other formerly known mutations of this gene portion
- Subclinical hypothyroidism as a rare cofactor in chronic kidney disease (CKD) – related anemia
- Cytometric analysis of perforin expression in NK cells, CD8+, and CD4+ lymphocytes in children with autoimmune Hashimoto’s thyroiditis – a preliminary study
- Papillary thyroid cancer and autoimmune polyglandular syndrome
- Review article
- Should radioiodine be the first-line treatment for paediatric Graves’ disease?
- Image in pediatric endrocrinology
- Diffusion-weighted magnetic resonance imaging in a case of severe classic maple syrup urine disease
- Original articles
- Novel mutations of DAX1 (NR0B1) in two Chinese families with X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism
- Rickets and vitamin D deficiency in Alaska native children
- Persistent elevation of fibroblast growth factor 23 concentrations in healthy appropriate-for-gestational-age preterm infants
- Parents’ experiences of having a baby with ambiguous genitalia
- Effect of GnRHa 3.75 mg subcutaneously every 6 weeks on adult height in girls with idiopathic central precocious puberty
- Congenital adrenal hyperplasia in children – a survey on the current practice in the UK
- Randomized clinical trial evaluating metformin versus oral contraceptive pills in the treatment of adolescents with polycystic ovarian syndrome
- Influence of the body weight on the onset and progression of puberty in boys
- Therapy monitoring in congenital adrenal hyperplasia by dried blood samples
- Hyperinsulinemic hypoglycemia: think of hyperinsulinism/hyperammonemia (HI/HA) syndrome caused by mutations in the GLUD1 gene
- Sulfonylurea in the treatment of neonatal diabetes mellitus children with heterogeneous genetic backgrounds
- Monitoring gonadotropin-releasing hormone analogue (GnRHa) treatment in girls with central precocious puberty: a comparison of four methods
- Dietary intake, body composition, and physical activity among young patients with type 1 diabetes mellitus
- Metabolic syndrome in obese children and adolescents in Serbia: prevalence and risk factors
- Progressive osseous heteroplasia, as an isolated entity or overlapping with Albright hereditary osteodystrophy
- Patient reports
- 17α-Hydroylase/17,20-lyase deficiency related to P.Y27*(c.81C>A) mutation in CYP17A1 gene
- A patient developing anaphylaxis and sensitivity to two different GnRH analogues and a review of literature
- Idiopathic short stature due to novel heterozygous mutation of the aggrecan gene
- Triple A syndrome with a novel indel mutation in the AAAS gene and delayed puberty
- Case report: long-term follow-up of a 45,X male with SHOX haploinsufficiency
- Antenatal Bartter syndrome presenting as hyperparathyroidism with hypercalcemia and hypercalciuria: a case report and review
- Successful use of continuous subcutaneous hydrocortisone infusion after bilateral adrenalectomy secondary to bilateral pheochromocytoma
- Donohue syndrome: a new case with a new complication
- Euprolactinemic galactorrhea secondary to domperidone treatment
- 17βHSD-3 enzyme deficiency due to novel mutations in the HSD17B3 gene diagnosed in a neonate
- Two different patterns of mini-puberty in two 46,XY newborns with 17β-hydroxysteroid dehydrogenase type 3 deficiency
- Short communication
- Early onset hearing loss in autosomal recessive hypophosphatemic rickets caused by loss of function mutation in ENPP1
Artikel in diesem Heft
- Frontmatter
- Highlight: Thyroid
- Thyroid disorders revisited
- Genetic analysis of the paired box transcription factor (PAX8) gene in a cohort of Polish patients with primary congenital hypothyroidism and dysgenetic thyroid glands
- Prognostic factors in pediatric differentiated thyroid cancer patients with pulmonary metastases
- Reclassification of cytologically atypical thyroid nodules based on radiologic features in pediatric patients
- Evaluation of inflammatory and oxidative biomarkers in children with well-controlled congenital hypothyroidism
- Investigation of autoimmune diseases accompanying Hashimoto’s thyroiditis in children and adolescents and evaluation of cardiac signs
- Neonatal thyroid storm accompanied with severe anaemia
- Functional characterization of the novel sequence variant p.S304R in the hinge region of TSHR in a congenital hypothyroidism patients and analogy with other formerly known mutations of this gene portion
- Subclinical hypothyroidism as a rare cofactor in chronic kidney disease (CKD) – related anemia
- Cytometric analysis of perforin expression in NK cells, CD8+, and CD4+ lymphocytes in children with autoimmune Hashimoto’s thyroiditis – a preliminary study
- Papillary thyroid cancer and autoimmune polyglandular syndrome
- Review article
- Should radioiodine be the first-line treatment for paediatric Graves’ disease?
- Image in pediatric endrocrinology
- Diffusion-weighted magnetic resonance imaging in a case of severe classic maple syrup urine disease
- Original articles
- Novel mutations of DAX1 (NR0B1) in two Chinese families with X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism
- Rickets and vitamin D deficiency in Alaska native children
- Persistent elevation of fibroblast growth factor 23 concentrations in healthy appropriate-for-gestational-age preterm infants
- Parents’ experiences of having a baby with ambiguous genitalia
- Effect of GnRHa 3.75 mg subcutaneously every 6 weeks on adult height in girls with idiopathic central precocious puberty
- Congenital adrenal hyperplasia in children – a survey on the current practice in the UK
- Randomized clinical trial evaluating metformin versus oral contraceptive pills in the treatment of adolescents with polycystic ovarian syndrome
- Influence of the body weight on the onset and progression of puberty in boys
- Therapy monitoring in congenital adrenal hyperplasia by dried blood samples
- Hyperinsulinemic hypoglycemia: think of hyperinsulinism/hyperammonemia (HI/HA) syndrome caused by mutations in the GLUD1 gene
- Sulfonylurea in the treatment of neonatal diabetes mellitus children with heterogeneous genetic backgrounds
- Monitoring gonadotropin-releasing hormone analogue (GnRHa) treatment in girls with central precocious puberty: a comparison of four methods
- Dietary intake, body composition, and physical activity among young patients with type 1 diabetes mellitus
- Metabolic syndrome in obese children and adolescents in Serbia: prevalence and risk factors
- Progressive osseous heteroplasia, as an isolated entity or overlapping with Albright hereditary osteodystrophy
- Patient reports
- 17α-Hydroylase/17,20-lyase deficiency related to P.Y27*(c.81C>A) mutation in CYP17A1 gene
- A patient developing anaphylaxis and sensitivity to two different GnRH analogues and a review of literature
- Idiopathic short stature due to novel heterozygous mutation of the aggrecan gene
- Triple A syndrome with a novel indel mutation in the AAAS gene and delayed puberty
- Case report: long-term follow-up of a 45,X male with SHOX haploinsufficiency
- Antenatal Bartter syndrome presenting as hyperparathyroidism with hypercalcemia and hypercalciuria: a case report and review
- Successful use of continuous subcutaneous hydrocortisone infusion after bilateral adrenalectomy secondary to bilateral pheochromocytoma
- Donohue syndrome: a new case with a new complication
- Euprolactinemic galactorrhea secondary to domperidone treatment
- 17βHSD-3 enzyme deficiency due to novel mutations in the HSD17B3 gene diagnosed in a neonate
- Two different patterns of mini-puberty in two 46,XY newborns with 17β-hydroxysteroid dehydrogenase type 3 deficiency
- Short communication
- Early onset hearing loss in autosomal recessive hypophosphatemic rickets caused by loss of function mutation in ENPP1
