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== [[Differential Cyanosis|Differential]] diagnosis ==
=Codes=
{|
<div style="text-align: center;">'''Corrected total calcium = measured total calcium + 0.8 (4.0 − serum albumin)''' </div>
! colspan="4" style="background: #4479BA; text-align: center;" |{{fontcolor|#FFF|Hypoparathyroidism}}
 
! style="background: #4479BA; text-align: center;" |{{fontcolor|#FFF|Inheritance}}
 
! style="background: #4479BA; text-align: center;" |{{fontcolor|#FFF|Gene mutation}}
<div style="width: 70%;">
! style="background: #4479BA; text-align: center;" |{{fontcolor|#FFF|Clinical features}}
 
|-
<br style="clear:left" />
| colspan="2" style="padding: 5px 5px; background: #DCDCDC;" align="center" |Autoimmune
 
| style="padding: 5px 5px; background: #DCDCDC;" align="center" |Autoimmune polyglandular hypoparathyroidism
==References==
| style="padding: 5px 5px; background: #DCDCDC;" align="center" |Autoimmune polyglandular endocrinopathy type 1
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[Autosomal recessive]]
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |Mutation in AIRE gene
| style="padding: 5px 5px; background: #F5F5F5;" |
*Also known as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED).
*Presents with a variable combination of:
**Failure of the parathyroid glands, adrenal cortex, gonads, pancreatic beta cells, gastric parietal cells, and thyroid gland, and hepatitis
**Chronic mucocutaneous candidiasis
**Dystrophy of dental enamel and nails, alopecia, vitiligo, and keratopath
|-
| colspan="2" rowspan="7" style="padding: 5px 5px; background: #DCDCDC;" align="center" |Isolated
| colspan="2" rowspan="5" style="padding: 5px 5px; background: #DCDCDC;" align="center" |Familial Isolated hypoparathyroidism
| rowspan="2" style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[Autosomal dominant]]
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |PTH gene
| style="padding: 5px 5px; background: #F5F5F5;" |
*Clinical features of hypocalcemia including
**Tetany (hallmark of acute hypocalcemia)
**Paresthesia in fingertips, toes, perioral area
**Carpopedal spasms
**Circumoral numbness
|-
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[GCM2]] gene
| style="padding: 5px 5px; background: #F5F5F5;" |
*Clinical features of hypocalcemia including
**Tetany (hallmark of acute hypocalcemia)
**Paresthesia in fingertips, toes, perioral area
**Carpopedal spasms
**Circumoral numbness
*[[Dominant negative mutation]]
|-
| rowspan="2" style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[Autosomal recessive]]
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |PTH gene
| style="padding: 5px 5px; background: #F5F5F5;" |
*Clinical features of hypocalcemia including
**Tetany (hallmark of acute hypocalcemia)
**Paresthesia in fingertips, toes, perioral area
**Carpopedal spasms
**Circumoral numbness
|-
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[GCM2]] gene<ref name="pmid18712808" />
| style="padding: 5px 5px; background: #F5F5F5;" |
*Clinical features of hypocalcemia including
**Tetany (hallmark of acute hypocalcemia)
**Paresthesia in fingertips, toes, perioral area
**Carpopedal spasms
**Circumoral numbness
|-
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[X-linked]]
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[FHL1 (gene)|FHL1]] gene (exon 4, c.C283T, p.R95W) on chromosome locus Xq26-q27.
| style="padding: 5px 5px; background: #F5F5F5;" |
*Clinical features of hypocalcemia including
**Tetany (hallmark of acute hypocalcemia)
**Paresthesia in fingertips, toes, perioral area
**Carpopedal spasms
**Circumoral numbness
|-
| rowspan="2" style="padding: 5px 5px; background: #DCDCDC;" align="center" |Autosomal dominant hypercalcemia
| style="padding: 5px 5px; background: #DCDCDC;" align="center" |Autosomal dominant hypocalcemia type 1
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[Autosomal dominant]]
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |Calcium-sensing receptor gene mutation
| style="padding: 5px 5px; background: #F5F5F5;" |
*[[Calcium-sensing receptor|Calcium-sensing]] receptor gene activating mutation.
*'''Most common genetic form''' of hypoparathyroidism.
*Also known as familial hypercalciuric hypocalcemia.
*The activating mutation results in gain in function.
*Calcium-sensing receptor gene activating mutation can also cause Bartter syndrome type 5.This mutation cause the inhibition of apical potassium channel in the thick ascending limb of the loop of Henle in the kidney.
|-
| style="padding: 5px 5px; background: #DCDCDC;" align="center" |Autosomal dominant hypocalcemia type 2
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[Autosomal dominant]]
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |G protein G11 (GNA11) mutation
| style="padding: 5px 5px; background: #F5F5F5;" |
*Clinical features of hypocalcemia including
**Tetany (hallmark of acute hypocalcemia)
**Paresthesia in fingertips, toes, perioral area
**Carpopedal spasms
**Circumoral numbness
|-
| colspan="2" rowspan="6" style="padding: 5px 5px; background: #DCDCDC;" align="center" |Congenital multisystem syndromes
| colspan="2" style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''[[DiGeorge syndrome]]'''
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[Autosomal dominant]]
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[22q11.2 deletion syndrome|22q11.2 deletion]].
| style="padding: 5px 5px; background: #F5F5F5;" |
* Presents with [[thymus]] [[dysfunction]], [[cardiac]] defects, [[immunodeficiency]], [[hypocalcemia]], and other clinical problems.
*Also known as [[22q11.2DS]], [[CATCH 22 syndrome]], [[Cayler cardiofacial syndrome]], [[conotruncal anomaly face syndrome]] ([[CTAF]]), [[deletion 22q11.2 syndrome]], [[Sedlackova syndrome]], [[Shprintzen syndrome]], VCFS, [[velocardiofacial syndrome]], and velo-cardio-facial syndrome.
*[[CATCH 22 syndrome|CATCH 22]] stands for [[cardiac]] defects, abnormal facies, [[thymic]] [[aplasia]], [[cleft palate]], and [[hypocalcemia]] with [[22q11.2 deletion syndrome|22q11.2 deletion]].
|-
| colspan="2" style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''[[CHARGE syndrome]]'''
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[Autosomal dominant]]
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |CHD7 G744S [[missense mutation]]
| style="padding: 5px 5px; background: #F5F5F5;" |
* Presents with [[coloboma]], [[heart]] defects, [[Choanal atresia|atresia choanae]], retarded growth and development, [[Genitourinary pathology|genitourinary abnormalities]], and [[ear]] anomalies and/or [[deafness]].
|-
| colspan="2" style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''Kenny-Caffey syndrome type 1'''
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[Autosomal recessive]]
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |Deletion of the [[TBCE]] gene
| style="padding: 5px 5px; background: #F5F5F5;" |
* Presents with [[hypoparathyroidism]] due to absent parathyroid tissue, growth retardation, medullary stenosis of tubular bones.
|-
| colspan="2" style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''Kenny-Caffey syndrome type 2'''
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[Autosomal dominant]]
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |Mutation of “family with sequence similarity 111, member A″ (FAM111A) gene located on chromosome locus 11q12.1
| style="padding: 5px 5px; background: #F5F5F5;" |
* Patients with Kenny-Caffey sundrome type 2 have same clinical features as Kenny-Caffey syndrome type 1 except for mental retardation.
|-
| colspan="2" style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''Sanjad-Sakati syndrome'''
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[Autosomal recessive]]
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |Mutation in [[TBCE]] gene.
| style="padding: 5px 5px; background: #F5F5F5;" |
* Sanjad-Sakati syndrome in exclusively found in arabian descent population.
* Presents with hypoparathyroidism, [[intellectual disability]], [[Dysmorphic feature|dysmorphism]].
|-
| colspan="2" style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''[[Barakat syndrome]]'''
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[Autosomal recessive]]
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[Mutation|Mutations]] in the [[GATA3]] gene
| style="padding: 5px 5px; background: #F5F5F5;" |
*Also known as hypoparathyroidism, [[deafness]], and renal dysplasia (HDR) syndrome
*Presents with primary hypoparathyroidism, nerve [[deafness]], steroid-resistant [[nephrosis]].
|-
| rowspan="6" style="padding: 5px 5px; background: #DCDCDC;" align="center" |Metabolic diseases
| rowspan="2" style="padding: 5px 5px; background: #DCDCDC;" align="center" |Mitochondiral polyneuropathies
| colspan="2" style="padding: 5px 5px; background: #DCDCDC;" align="center" |Kearns–Sayre syndrome
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | Mitochondrial inheritence
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | mtDNA deletion
| style="padding: 5px 5px; background: #F5F5F5;" |
*Progressive external ophthalmoplegia
*Retinitis pigmentosa
*Cardiomyopathy
*Heart block
|-
| colspan="2" style="padding: 5px 5px; background: #DCDCDC;" align="center" |Maternally inherited diabetes and deafness (MIDD)
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | Mitochondrial inheritence
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | MT‑TL1
| style="padding: 5px 5px; background: #F5F5F5;" |
*Diabetes mellitus and deafness
|-
| rowspan="2" style="padding: 5px 5px; background: #DCDCDC;" align="center" |Mitochondrial enzyme deficiencies
| colspan="2" style="padding: 5px 5px; background: #DCDCDC;" align="center" |Mitochondrial trifunctional protein deficiency (MTP deficiency)
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | [[Autosomal recessive]]
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | HADHA or HADHB gene mutation
| style="padding: 5px 5px; background: #F5F5F5;" |
*Clinical features of mitochondrial trifunctional protein deficiency occurring during infancy include:
**Feeding difficulties
**Lethargy
**Hypoglycemia
**Hypotonia
**Liver problems
*Infants with mitochondrial trifunctional protein deficiency are also at increased risk for:
**Serious heart problems
**Breathing difficulties
**Coma
**Sudden death
*Clinical features of mitochondrial trifunctional protein deficiency occurring after infancy include:
**Hypotonia
**Muscle pain
**Breakdown of muscle tissue
**Peripheral neuropathy
|-
| colspan="2" style="padding: 5px 5px; background: #DCDCDC;" align="center" |Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (LCHAD deficiency)
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[Autosomal recessive]]
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |G1528C gene mutation
| style="padding: 5px 5px; background: #F5F5F5;" |
*Clinical features of LCHAD deficiency include:
**Hypoglycemia
**Hepatopathy
**Hypotonia
**Cardiomyopathy
**Retinopathy
|-
| rowspan="2" style="padding: 5px 5px; background: #DCDCDC;" align="center" |Heavy metal storage disorders
| colspan="2" style="padding: 5px 5px; background: #DCDCDC;" align="center" |Hemochromatosis
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[Autosomal recessive]]
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |HFE gene mutation
| style="padding: 5px 5px; background: #F5F5F5;" |
*Early symptoms of hereditary hemochromatosis are nonspecific and may include:
**Fatigue
**Joint pain
**Abdominal pain
**Decreased libido
*Late stage clinical features may include:
**Arthritis
**Liver disease
**Diabetes
**Heart abnormalities
**Skin discoloration.
|-
| colspan="2" style="padding: 5px 5px; background: #DCDCDC;" align="center" |Wilson's disease
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | [[Autosomal recessive]]
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | ATP7B gene mutation
| style="padding: 5px 5px; background: #F5F5F5;" |
*Clinical features of Wilson's disease include:
**Initial feature
***Children and young adults: Liver disease
***Adults: nervous system disorders and psychiatric problems
*Other clinical features include:
**Clumsiness
**Tremors
**Difficulty walking
**Speech problems
**Impaired thinking ability
**Depression
**Anxiety
**Mood swings.
|}
<references />

Latest revision as of 15:49, 5 March 2018

 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Hypercalcemia
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Related to Parathyroid gland
 
 
 
 
 
 
 
 
 
 
 
Unrelated to parathyroid gland
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Primary hyperparathyroidism
 
 
Secondary hyperparathyroidism
 
 
Tertiary hyperparathyroidism
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Typical primary hyperparathyroidism
 
Familial hypocalciuric hypercalcemia
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Malignancy
 
 
 
 
 
Medication induced
 
 
 
Nutritional
 
 
 
 
Granulomatous disease
 
 
Surgical
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Para-neoplastic syndrome: Parathyroid hormone related peptide
 
Metaplasia: Hypercalcemia due to bone destruction
 
Thiazide diuretics
 
Lithium
 
Milk alkali syndrome
 
Vitamin D toxicity
 
Sarcoidosis
 
 
Immobilization
 

Codes

Corrected total calcium = measured total calcium + 0.8 (4.0 − serum albumin)



References

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