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1.
BMJ Case Rep ; 12(9)2019 Sep 12.
Artigo em Inglês | MEDLINE | ID: mdl-31519715

RESUMO

Hypoparathyroidism patients present with features of hypocalcemia like carpopedal spasm, numbness and paresthesias but hypocalcemic cardiomyopathy leading to congestive heart failure (CHF) is a rare presentation. We present here a case of 55-year-old Asian man who was a known case of dilated cardiomyopathy for 6 months, presented with the chief complaints of shortness of breath on exertion and decreased urine output. On general physical examination, features suggestive of CHF were seen. Chvostek and Trousseau's sign was positive. The patient had a history of cataract surgery of both eyes 15 years ago. Further investigations revealed hypocalcemia. Echo showed severe global hypokinesia of left ventricle with left ventricle ejection fraction 15%. This CHF was refractory to conventional treatment, though, with calcium supplementation, the patient improved symptomatically. On follow-up after 3 months, an improvement was seen in the echocardiographic parameters with ejection fraction improving to 25%.


Assuntos
Cardiomiopatia Dilatada/complicações , Insuficiência Cardíaca/etiologia , Hipocalcemia/complicações , Hipoparatireoidismo/complicações , Gluconato de Cálcio/administração & dosagem , Gluconato de Cálcio/uso terapêutico , Cardiomiopatia Dilatada/diagnóstico , Ecocardiografia/métodos , Insuficiência Cardíaca/tratamento farmacológico , Insuficiência Cardíaca/fisiopatologia , Humanos , Hipocalcemia/diagnóstico , Hipocalcemia/tratamento farmacológico , Hipocalcemia/fisiopatologia , Hipoparatireoidismo/tratamento farmacológico , Masculino , Pessoa de Meia-Idade , Volume Sistólico , Resultado do Tratamento , Disfunção Ventricular Esquerda/diagnóstico por imagem
3.
Endocrinol. diabetes nutr. (Ed. impr.) ; 66(7): 459-463, ago.-sept. 2019. graf, tab
Artigo em Espanhol | IBECS | ID: ibc-182865

RESUMO

El hipoparatiroidismo es la complicación más frecuente tras la tiroidectomía total. Se define por la presencia de hipocalcemia con unos niveles de hormona paratiroidea (PTH) bajos o inadecuadamente normales. La hipocalcemia aguda es una complicación potencialmente grave. Su tratamiento se basa, según la gravedad del cuadro, en la administración de calcio por vía oral o intravenosa, pudiendo requerir asimismo calcitriol oral. El riesgo de hipocalcemia sintomática tras una tiroidectomía es muy bajo si la PTH postoperatoria desciende menos del 80% respecto de la preoperatoria. Estos pacientes podrían ser dados de alta sin tratamiento, aunque los umbrales son variables entre laboratorios y recomendamos extremar la vigilancia en los casos de riesgo aumentado (enfermedad de Graves, grandes bocios, reintervenciones o constancia de la extirpación de alguna paratiroides). El tratamiento a largo plazo busca controlar los síntomas manteniendo la calcemia en el límite bajo de la normalidad, vigilando el producto calcio-fósforo y la aparición de hipercalciuria


Hypoparathyroidism is the most common complication after total or completion thyroidectomy. It is defined as the presence of hypocalcemia accompanied by low or inappropriately normal parathyroid hormone (PTH) levels. Acute hypocalcemia is a potential lethal complication. Hypocalcemia treatment is based on endovenous or oral calcium supplements as well as oral calcitriol, depending on the severity of the symptoms. The risk of clinical hypocalcemia after bilateral thyroidectomy is considered very low if postoperative intact PTH decrease less than 80% with respect to preoperative levels. These patients could be discharged home without treatment, although this threshold may vary between institutions, and we recommend close surveillance in cases with increased risk (Graves disease, large goiters, reinterventions or evidence of parathyroid gland removal). Long-term treatment objectives are to control the symptoms and to keep serum calcium levels at the lower limit of the normal range, while preserving the calcium phosphate product and avoiding hypercalciuria


Assuntos
Humanos , Consenso , Hipoparatireoidismo/complicações , Hipoparatireoidismo/epidemiologia , Tireoidectomia/métodos , Tireoidectomia/efeitos adversos , Cálcio/administração & dosagem , Cuidados Pré-Operatórios/métodos , Liberação de Cirurgia/normas
4.
BMC Musculoskelet Disord ; 20(1): 362, 2019 Aug 07.
Artigo em Inglês | MEDLINE | ID: mdl-31391033

RESUMO

BACKGROUND: Fahr's syndrome presenting multiple and symmetric calcification of basal ganglia and cerebral cortex is rare, and idiopathic hypoparatyroidism is known as one of the causes. The relationship between ossification of posterior longitudinal ligament (OPLL) and idiopathic hypoparatyroidism is also reported in a few cases. Here, we report a patient presenting concomitant Fahr's syndrome and thoracic OPLL developed by idiopathic hypoparatyroidism. CASE PRESENTATION: 53-year-old female patient presented myelopathic sign including gait disturbance and both leg weakness (Grade 3) for 4 months after slip down, and has the history of anti-epileptic medication for several years. Magnetic resonance imaging revealed cord compression by the mixed-type OPLL from T5 to T9, and decompressive surgery was planned. Sudden onset generalized tonic-clonic seizure attack developed before the surgery. Hypocalcemia (3.7 mg/dL) with QT prolongation on electrocardiogram, hypomagnesemia (1.4 mg/dL), hyperphosphatemia (7.7 mg/dL), hypoparathyroidism, and normal range of vitamin D was noted. Brain study showed Fahr's syndrome with multiple and symmetric calcification of basal ganglia, cerebral cortex, and cerebellum. Decompressive laminectomy was performed after transient correction of hypocalcemia. The myelopathic symptoms improved to normal walking by the 14-month follow-up. The cause of hypoparathyroidism was concluded to be idiopathic. CONCLUSION: Concomitant expression of Fahr's syndrome and OPLL related with idiopathic hypoparatyroidism is very rare. However, we recommend considering the possibility of hypoparathyroidism and Fahr's syndrome when we evaluate the patients with OPLL to avoid the risks of sudden onset seizure and cardiac arrhythmia due to cerebral lesions and hypocalcemia.


Assuntos
Doenças dos Gânglios da Base/etiologia , Calcinose/etiologia , Hipoparatireoidismo/complicações , Doenças Neurodegenerativas/etiologia , Ossificação do Ligamento Longitudinal Posterior/etiologia , Doenças dos Gânglios da Base/diagnóstico , Encéfalo/diagnóstico por imagem , Calcinose/diagnóstico , Descompressão Cirúrgica , Feminino , Humanos , Hipoparatireoidismo/diagnóstico , Ligamentos Longitudinais/diagnóstico por imagem , Imagem por Ressonância Magnética , Pessoa de Meia-Idade , Doenças Neurodegenerativas/diagnóstico , Ossificação do Ligamento Longitudinal Posterior/diagnóstico , Ossificação do Ligamento Longitudinal Posterior/cirurgia , Vértebras Torácicas , Tomografia Computadorizada por Raios X
5.
BMJ Case Rep ; 12(8)2019 Aug 15.
Artigo em Inglês | MEDLINE | ID: mdl-31420423

RESUMO

Neonatal hypoparathyroidism is one of the rare causes of hypocalcaemia. Several cases of neonatal hypoparathyroidism secondary to maternal hyperparathyroidism have been reported. In this case report, we have a term neonate with normal birth history who presented with late onset hypocalcemic seizures. After excluding polyendocrinopathies and related syndromes, hypocalcaemia seizures were secondary to maternal asymptomatic hypoparathyroidism. Since this is one variety of unusual case of maternal and fetal hypoparathyroidism, further testing was mandatory to confirm familial origin. This focuses on the need for every clinician to test maternal metabolic status in case of neonatal manifestations.


Assuntos
Hipocalcemia/etiologia , Hipoparatireoidismo/complicações , Doenças do Recém-Nascido/etiologia , Complicações na Gravidez/etiologia , Efeitos Tardios da Exposição Pré-Natal/etiologia , Convulsões/etiologia , Feminino , Humanos , Recém-Nascido , Gravidez
6.
Acta Med Port ; 32(5): 402-406, 2019 May 31.
Artigo em Português | MEDLINE | ID: mdl-31166902

RESUMO

Pathological basal ganglia calcification, or Fahr's Syndrome, can be secondary to a variety of diseases, namely parathyroid disturbances. Movement disorders are common clinical features, in which chorea is seen in less than 20% of cases and dystonia just in 8%. We report the clinical case of a 49-year-old male with a history of thyroidectomy, who was admitted in Emergency Service with acute generalized chorea and focal painful feet dystonia. Laboratory analysis showed hypocalcemia and rhabdomyolysis, and computed tomography scan revealed parenchymal calcification with basal ganglia involvement. After complementary studies we established a Fahr's Syndrome diagnosis secondary to an iatrogenic hypoparathyroidism. Clinical management has been successful with stabilized calcium levels, with no more neurologic symptoms. Hypocalcemia should be readily investigated and treated after a thyroidectomy, given the irreversibility of intracerebral calcifications and potential neurological or systemic consequences.


Assuntos
Doenças dos Gânglios da Base/etiologia , Calcinose/etiologia , Coreia/etiologia , Distonia/etiologia , Hipoparatireoidismo/complicações , Doenças Neurodegenerativas/etiologia , Doenças dos Gânglios da Base/diagnóstico , Calcinose/diagnóstico , Humanos , Hipocalcemia/diagnóstico , Hipocalcemia/etiologia , Doença Iatrogênica , Masculino , Pessoa de Meia-Idade , Doenças Neurodegenerativas/diagnóstico , Complicações Pós-Operatórias/diagnóstico , Complicações Pós-Operatórias/etiologia , Tireoidectomia/efeitos adversos , Tomografia Computadorizada por Raios X
8.
Pan Afr Med J ; 32: 34, 2019.
Artigo em Francês | MEDLINE | ID: mdl-31143339

RESUMO

We here report the case of a 38-year old woman with dilated cardiomyopathy induced by hypocalcaemia secondary to hypoparathyroidism. The patient had low calcium level (30 mg/L) and echocardiography showed dilated-hypokinetic cardiomyopathy with reduced left ventricular ejection fraction (31.4%). She received calcitherapy associated with vitamin D3 and her evolution was marked by the normalization of the size of the cardiac cavities and of the left ventricular ejection fraction after normocalcemia.


Assuntos
Cardiomiopatia Dilatada/etiologia , Hipocalcemia/complicações , Hipoparatireoidismo/complicações , Tireoidectomia/métodos , Adulto , Cálcio/administração & dosagem , Cálcio/sangue , Cardiomiopatia Dilatada/diagnóstico , Cardiomiopatia Dilatada/fisiopatologia , Colecalciferol/administração & dosagem , Feminino , Humanos , Hipocalcemia/etiologia , Hipoparatireoidismo/etiologia , Volume Sistólico , Resultado do Tratamento
9.
BMJ Case Rep ; 12(5)2019 May 27.
Artigo em Inglês | MEDLINE | ID: mdl-31133546

RESUMO

A 31-year-old woman experienced tetany and was diagnosed with Hashimoto thyroiditis and hypoparathyroidism. At 33 years of age, her renal function gradually decreased. At 39 years of age, she moved to our hospital and was diagnosed with tubulointerstitial nephritis by renal biopsy. Simultaneously, she was diagnosed with Sjögren's syndrome by autoantibodies and salivary gland biopsy. At 40 years of age, based on hypoglycaemia and eosinophilia, she was suspected of adrenal insufficiency, and was diagnosed with primary adrenal insufficiency by both corticotropin stimulation and corticotropin-releasing hormone stimulation test. She was diagnosed as autoimmune polyglandular syndrome (APS) (Hashimoto thyroiditis and possible primary adrenal insufficiency) as well as primary hypoparathyroidism and Sjögren's syndrome, which are very rarely complicated in APS-2. Therefore, in this patient, it was helpful to pay attention for new onset of other autoimmune diseases.


Assuntos
Insuficiência Adrenal/diagnóstico , Doença de Hashimoto/diagnóstico , Hipoparatireoidismo/complicações , Poliendocrinopatias Autoimunes/diagnóstico , Síndrome de Sjogren/complicações , Insuficiência Adrenal/sangue , Insuficiência Adrenal/imunologia , Adulto , Autoanticorpos/sangue , Doenças Autoimunes , Diagnóstico Diferencial , Eosinofilia/diagnóstico , Eosinofilia/etiologia , Feminino , Humanos , Hipoglicemia/diagnóstico , Hipoglicemia/etiologia , Hipoparatireoidismo/diagnóstico , Nefrite Intersticial/diagnóstico , Nefrite Intersticial/etiologia , Poliendocrinopatias Autoimunes/imunologia , Doenças Raras , Síndrome de Sjogren/diagnóstico , Síndrome de Sjogren/imunologia
10.
Front Horm Res ; 51: 139-146, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30641520

RESUMO

Parathyroid hormone (PTH) is one of the major hormones that regulates serum calcium. Hypoparathyroidism occurs when PTH secretion is insufficient. The main symptoms of hypoparathyroidism are the result of low blood calcium levels, hypocalcemia, which interferes with normal muscle contraction and nerve conduction. As a result, people with hypoparathyroidism can experience paresthesia, an unpleasant tingling sensation around the mouth and in the hands and feet, as well as muscle cramps and severe spasms known as "tetany" that affect the hands and feet. Many also report a number of other subjective symptoms. Hypocalcemia can be the cause of medical emergencies, for example seizures, severe irregularities in the normal heart beat, as well as laryngospasm, stridor, bronchospasm, and wheezing.


Assuntos
Hipocalcemia , Hipoparatireoidismo , Humanos , Hipocalcemia/complicações , Hipocalcemia/metabolismo , Hipocalcemia/fisiopatologia , Hipoparatireoidismo/complicações , Hipoparatireoidismo/metabolismo , Hipoparatireoidismo/fisiopatologia
11.
Auris Nasus Larynx ; 46(5): 808-812, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-30396722

RESUMO

Hypoparathyroidism-deafness-renal dysplasia (HDR) syndrome is a rare autosomal dominant disorder primarily caused by GATA3 haploinsufficiency and is challenging to diagnose in early childhood. We report a Japanese family with HDR syndrome and congenital choanal atresia. The 6-year-old female proband was diagnosed with epilepsy at the age of three. Under carbamazepine monotherapy, the patient presented hypoparathyroidism accompanied by severe hypocalcemia. Subsequently, renal ultrasound analysis revealed bilateral multicystic dysplastic kidneys. Because she had difficulty hearing, we sequenced GATA3 and determined that she had a c.708_709insC (p.Ser237Glnfs*66) allelic variant in exon 3. As a result, we found a family of this disease. Each family member, including her grandfather, mother, and two siblings, had HDR syndrome of varying clinical penetrance. We found a craniofacial anomaly, congenital choanal atresia, which was inherited as an autosomal dominant trait. Hypocalcemia coupled with vitamin D deficiency, triggered by carbamazepine treatment, ultimately revealed the proband's childhood- onset HDR syndrome. Pure-tone audiometry revealed different severities of deafness as well as the progression of sensory hearing loss. However, auditory brainstem response for hearing screening is probably insufficient for ascertaining HDR syndrome in the early stages of life. We presented new clinical clues to diagnose the HDR syndrome.


Assuntos
Atresia das Cóanas/genética , Fator de Transcrição GATA3/genética , Perda Auditiva Neurossensorial/genética , Hipoparatireoidismo/genética , Nefrose/genética , Adulto , Anticonvulsivantes/efeitos adversos , Audiometria de Tons Puros , Carbamazepina/efeitos adversos , Criança , Atresia das Cóanas/complicações , Atresia das Cóanas/diagnóstico , Epilepsia/tratamento farmacológico , Potenciais Evocados Auditivos do Tronco Encefálico , Feminino , Avós , Haploinsuficiência , Perda Auditiva Neurossensorial/complicações , Perda Auditiva Neurossensorial/diagnóstico , Humanos , Hipocalcemia/induzido quimicamente , Hipocalcemia/etiologia , Hipoparatireoidismo/complicações , Hipoparatireoidismo/diagnóstico , Lactente , Recém-Nascido , Masculino , Pessoa de Meia-Idade , Mães , Triagem Neonatal , Nefrose/complicações , Nefrose/diagnóstico , Linhagem , Irmãos , Tomografia Computadorizada por Raios X , Deficiência de Vitamina D/induzido quimicamente
12.
Eur J Endocrinol ; 180(1): 71-78, 2019 Jan 01.
Artigo em Inglês | MEDLINE | ID: mdl-30407920

RESUMO

Objective Chronic hypoparathyroidism and its treatment may lead to symptoms and complications affecting quality of life. We determined complications in chronic hypoparathyroid patients. Design Retrospective cross-sectional study of patients with chronic hypoparathyroidism treated with active vitamin D supplements in a tertiary care centre during the year 2015. Primary outcome parameters were history of kidney stones and seizures and presence of renal and cerebral calcifications on imaging. Secondary outcome parameters were current symptoms of paraesthesia/cramps, hospitalization due to hyper/hypocalcaemia and hypercalciuria. Subjects One hundred and seventy patients were included - 143 (84%) with post-surgical hypoparathyroidism (PSHP), 16 (9%) with non-surgical hypoparathyroidism (NSHP) and 11 (7%) with pseudo-hypoparathyroidism (PHP). Results History of kidney stones and seizures was present in 15 and 9% of patients, respectively. Renal and cerebral imaging was performed in 51 and 26% of the patients, with 22 and 25% of these patients having renal and cerebral calcifications respectively. Both history of seizures and cerebral calcifications were significantly more in NSHP and PHP than in PSHP patients. No association was observed between seizures and cerebral calcifications. Cramps/paraesthesia were present in 16%, and hospitalization related to hypocalcaemia was reported in 5% of the patients. Calciuria was screened in 47% at the time of consultation, and in 76% of the patients during the past 5 years. In 36% of these patients, calciuria was increased. Conclusions Patients with chronic hypoparathyroidism frequently develop ectopic calcifications. Non-surgical patients suffer more from seizures and cerebral calcifications than patients that developed hypoparathyroidism post surgery. There is a need for increased screening of long-term complications, according to the guidelines.


Assuntos
Hipercalciúria/etiologia , Hipoparatireoidismo/complicações , Cálculos Renais/etiologia , Convulsões/etiologia , Adulto , Idoso , Estudos Transversais , Feminino , Humanos , Hipoparatireoidismo/tratamento farmacológico , Masculino , Pessoa de Meia-Idade , Qualidade de Vida , Estudos Retrospectivos , Vitamina D/uso terapêutico
14.
Am J Case Rep ; 19: 1430-1433, 2018 Dec 01.
Artigo em Inglês | MEDLINE | ID: mdl-30504755

RESUMO

BACKGROUND Idiopathic basal ganglia calcification, also known as Fahr's disease or Fahr's syndrome, is a rare neurological disorder characterized by abnormal calcified deposits in the basal ganglia. Here, we report a case of Fahr's syndrome with calcification of the basal ganglia due to hypoparathyroidism in a patient with seizures. CASE REPORT A 52-year-old male patient visited our clinic with seizures. Brain computed tomography (CT) showed bilateral symmetrical calcifications in cerebellar white matter, the corpus striatum, the posterior thalami, and the centrum semiovale of both cerebral hemispheres. He had symptoms of hypocalcemia and low parathyroid hormone levels. The patient was diagnosed with Fahr's syndrome due to primary hypoparathyroidism. He underwent calcium supplementation and calcifediol treatment. His symptoms improved, and he was discharged from the hospital. CONCLUSIONS In patients with hypocalcemia accompanied by parathyroid dysfunction, neurological examination and CT should be performed to confirm abnormal intracranial calcification.


Assuntos
Doenças dos Gânglios da Base/diagnóstico , Calcinose/diagnóstico , Hipoparatireoidismo/complicações , Convulsões/etiologia , Encéfalo/diagnóstico por imagem , Humanos , Hipoparatireoidismo/diagnóstico , Masculino , Pessoa de Meia-Idade , Tomografia Computadorizada por Raios X
15.
Best Pract Res Clin Endocrinol Metab ; 32(6): 955-964, 2018 12.
Artigo em Inglês | MEDLINE | ID: mdl-30551988

RESUMO

The goal of the clinical management of hypoparathyroidism is to correct acute and chronic hypocalcemia. Treatment of acute hypoparathyroidism via intravenous infusion of Ca++ salts, is necessary only in symptomatic patients, or in asymptomatic patients in the setting of a rapid decrease in ionized Ca++ levels. The treatment cornerstones of chronic hypoparathyroidism are oral supplementation of calcium and/or active vitamin D, that can be associated with dietary restriction of sodium and phosphates, thiazide diuretics, and phosphate binders. Notably, PTH replacement is emerging as a innovative treatment of chronic hypoparathyroidism. rhPTH (1-84) has been shown to safely reduce calcium and vitamin D dosage, and increase serum calcium levels in hypoparathyroid patients. Therefore, rhPTH (1-84) appears to represent a new option in patients with chronic hypoparathyroidism "resistant" to conventional treatment.


Assuntos
Hipoparatireoidismo/terapia , Cálcio/administração & dosagem , Terapia de Reposição Hormonal , Humanos , Hipocalcemia/etiologia , Hipocalcemia/terapia , Hipoparatireoidismo/complicações , Hipoparatireoidismo/epidemiologia , Hormônio Paratireóideo/administração & dosagem , Hormônio Paratireóideo/sangue , Hormônio Paratireóideo/deficiência , Fosfatos/administração & dosagem , Vitamina D/administração & dosagem
16.
Best Pract Res Clin Endocrinol Metab ; 32(5): 639-656, 2018 10.
Artigo em Inglês | MEDLINE | ID: mdl-30449546

RESUMO

Calcium is vital for life, and extracellular calcium concentrations must constantly be maintained within a precise concentration range. Low serum calcium (hypocalcemia) occurs in conjunction with multiple disorders and can be life-threatening if severe. Symptoms of acute hypocalcemia include neuromuscular irritability, tetany, and seizures, which are rapidly resolved with intravenous administration of calcium gluconate. However, disorders that lead to chronic hypocalcemia often have more subtle manifestations. Hypoparathyroidism, characterized by impaired secretion of parathyroid hormone (PTH), a key regulatory hormone for maintaining calcium homeostasis, is a classic cause of chronic hypocalcemia. Disorders that disrupt the metabolism of vitamin D can also lead to chronic hypocalcemia, as vitamin D is responsible for increasing the gut absorption of dietary calcium. Treatment and management options for chronic hypocalcemia vary depending on the underlying disorder. For example, in patients with hypoparathyroidism, calcium and vitamin D supplementation must be carefully titrated to avoid symptoms of hypocalcemia while keeping serum calcium in the low-normal range to minimize hypercalciuria, which can lead to renal dysfunction. Management of chronic hypocalcemia requires knowledge of the factors that influence the complex regulatory axes of calcium homeostasis in a given disorder. This chapter discusses common and rare disorders of hypocalcemia, symptoms and workup, and management options including replacement of PTH in hypoparathyroidism.


Assuntos
Hipocalcemia , Administração Intravenosa , Conservadores da Densidade Óssea/administração & dosagem , Cálcio/sangue , Suplementos Nutricionais , Terapia de Reposição Hormonal/métodos , Humanos , Hipocalcemia/diagnóstico , Hipocalcemia/etiologia , Hipocalcemia/terapia , Hipoparatireoidismo/complicações , Hipoparatireoidismo/diagnóstico , Hipoparatireoidismo/terapia , Hormônio Paratireóideo/sangue , Hormônio Paratireóideo/uso terapêutico , Valores de Referência , Vitamina D/sangue
17.
Tunis Med ; 96(8-9): 472-476, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30430523

RESUMO

BACKGROUND: Hypoparathyroidism is a rare pediatric endocrine disease, which is caused by low circulating levels of PTH or insensitivity to its action in the target tissues. AIM: To report the clinical and biochemical characteristics and theoutcome of 8 patients with hypoparathyroidism. METHODS: We analyzed retrospectively the results of clinical, biochemical, radiological findings of patients with hypoparathyroidism diagnosed in pediatric department of Hedi Chaker Hospital during the period 1994-2013. RESULTS: Eight patients (5 females and 3 males) were diagnosed with hypoparathyroidism during 20 years's period. The median age at the onset of first symptoms was 17,5 months (15 days- 5 years and 10 months). Seizures were the most commonly presenting symptom and were seen in seven cases. Eight patients were diagnosed with hypoparathyroidism (Di-Georges syndrome: one case, Sanjad Sakati syndrome: 3 case, kearns sayre syndrome: 1 case, autoimmune polyendocrinopathy candidiasis- ectodermal dystrophy: one case, idiopathic hypoparathyroidism: two cases. Conventional treatment was based on calcium and vitamin D analogs. The average of follow up was 5 years. Nephrocalcinosis was noted in two patients. The death occurred in five patients; it was related to hypocalcaemia in one patient. CONCLUSION: The diagnosis of hyperparathyroidism is easy; it's established on the association of hypocalcaemia and hyperphosphatemia. Etiologic approach is based on molecular findings. Vitamin D analog treatment of hypoparathyroidism in children involves the challenge, of adjusting treatment dosage to minimize both symptomatic hypocalcemia and asymptomatic, but potentially kidney-damaging, hypercalciuria causing nephrocalcinosis and renal insufficiency.


Assuntos
Hipoparatireoidismo/epidemiologia , Hipoparatireoidismo/patologia , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/patologia , Idade de Início , Causas de Morte , Criança , Pré-Escolar , Estudos de Coortes , Síndrome de DiGeorge/complicações , Síndrome de DiGeorge/diagnóstico , Síndrome de DiGeorge/patologia , Evolução Fatal , Feminino , Transtornos do Crescimento/complicações , Transtornos do Crescimento/diagnóstico , Transtornos do Crescimento/patologia , Humanos , Hipoparatireoidismo/complicações , Hipoparatireoidismo/diagnóstico , Hipoparatireoidismo/etiologia , Lactente , Recém-Nascido , Deficiência Intelectual/complicações , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/patologia , Estudos Longitudinais , Masculino , Osteocondrodisplasias/complicações , Osteocondrodisplasias/diagnóstico , Osteocondrodisplasias/patologia , Estudos Retrospectivos , Convulsões/complicações , Convulsões/diagnóstico , Convulsões/patologia
18.
Tunis Med ; 96(8-9): 490-494, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30430526

RESUMO

AIM: We describe the clinical and etiological profile of patients with Fahr's syndrome (FS). METHODS: Charts of sixteen patients diagnosed with FS between 1999 and 2014 were retrospectively assessed. RESULTS:   The mean age at diagnosis was 44.68 years (11-67 years). The most main presenting neurological features were seizures in 6 cases, headaches in 5 cases and parkinson's syndrome in 3 cases. Psychiatric disorders were observed in 2 patients including memory loss and iritability. Hypocalcemia clinical features were observed in 7 cases. The mean value of hypocalcemia was 1.69 mmol/l. Etiologies included idiopathic hypoparathyroidism in 4 patients, pseudohypoparathyroidism in 5 cases, secondary hypoparathyroidism, isolated hypovitaminosis D and cerebral radiotherapy in one case for each and Fahr's disease in 4 patients.  Oral calcium and vitamin D substitution were started in patients with parathyroid disturbances with favorable outcome. CONCLUSION: In this report, we propose to discuss the clinical manifestations of FS, its etiologies especially parathyroid disturbances and its therapeutic modalities.


Assuntos
Doenças dos Gânglios da Base/diagnóstico , Doenças dos Gânglios da Base/epidemiologia , Doenças dos Gânglios da Base/etiologia , Calcinose/diagnóstico , Calcinose/epidemiologia , Calcinose/etiologia , Doenças Neurodegenerativas/diagnóstico , Doenças Neurodegenerativas/epidemiologia , Doenças Neurodegenerativas/etiologia , Adolescente , Adulto , Idade de Início , Idoso , Transtornos Cerebrovasculares/complicações , Transtornos Cerebrovasculares/diagnóstico , Transtornos Cerebrovasculares/epidemiologia , Criança , Comorbidade , Feminino , Humanos , Hipoparatireoidismo/complicações , Hipoparatireoidismo/diagnóstico , Hipoparatireoidismo/epidemiologia , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Fatores Sexuais , Tunísia/epidemiologia , Adulto Jovem
19.
Endocrinol Metab Clin North Am ; 47(4): 759-770, 2018 12.
Artigo em Inglês | MEDLINE | ID: mdl-30390811

RESUMO

Hypoparathyroidism is associated with a spectrum of clinical manifestations in the acute and chronic settings, from mild to debilitating. Although the acute symptoms of hypocalcemia are primarily due to neuromuscular irritability, the chronic manifestations of hypoparathyroidism may be due to the disease itself or to complications of therapy or to both. The chronic complications of hypoparathyroidism can affect multiple organ systems, including the renal, neurologic, neuropsychiatric, skeletal, and immune systems. Further research is needed to determine the pathophysiology of complications in hypoparathyroidism and whether interventions can decrease the risk of these complications.


Assuntos
Hipoparatireoidismo/complicações , Hipoparatireoidismo/diagnóstico , Calcinose/etiologia , Humanos , Hipocalcemia/etiologia , Hipoparatireoidismo/terapia
20.
Endocrinol Metab Clin North Am ; 47(4): 771-782, 2018 12.
Artigo em Inglês | MEDLINE | ID: mdl-30390812

RESUMO

Until recently, very few studies have described the epidemiology of this rare disorder. Several large population-based studies have recently been published describing the prevalence and incidence of hypoparathyroidism in various countries. Some of these studies have described the epidemiology of both postsurgical and nonsurgical hypoparathyroidism. In addition, a number of studies have now been published describing the prevalence of complications of this disorder. This article summarizes the published medical literature regarding the prevalence and incidence of this disorder, and the risk of known complications of hypoparathyroidism.


Assuntos
Hipoparatireoidismo/complicações , Hipoparatireoidismo/epidemiologia , Humanos , Hipoparatireoidismo/mortalidade , Incidência , Prevalência
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