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| __NOTOC____NOTOC__
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| {{Hyperparathyroidism}}
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| {{CMG}}; {{AE}} {{Anmol}} | | {{CMG}}; {{AE}} {{Anmol}} |
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| == Classification == | | ==Tables== |
| {| class="wikitable" | | {| class="wikitable" |
| ! colspan="4" |Classification of hyperparathyridism | | |+ |
| | !Diagnosis |
| | !Lab findings |
| | ! |
| | ! |
| |- | | |- |
| |Features
| | ! |
| |'''Primary hyperparathyroidism'''
| | ! |
| |'''Secondary hyperparathyroidism'''
| | ! |
| |'''Tertiary hyperparathyroidism'''
| | ! |
| |- | | |- |
| |Pathology | | | |
| |Hyperfunction of parathyroid cells due to hyperplasia, adenoma or carcinoma. | | | |
| |Physiological stimulation of parathyroid in response to hypocalcaemia. | | | |
| |Following long term physiological stimulation leading to hyperplasia. | | | |
| |- | | |- |
| |Cause | | | |
| | | | | |
| | | | | |
| | | | | |
| |- | | |- |
| |Associations | | | |
| |May be associated with multiple endocrine neoplasia. | | | |
| |Usually due to chronic renal failure or other causes of Vitamin D deficiency. | | | |
| |Seen in chronic renal failure. | | | |
| |-
| |
| |Serum calcium
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| |High
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| |Low/Normal
| |
| |High
| |
| |-
| |
| |Serum phosphate
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| |Low/Normal
| |
| |High
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| |High
| |
| |-
| |
| |Management
| |
| |Usually surgery if symptomatic. Cincacalcet can be considered in those not fit for surgery.
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| |Treatment of underlying cause.
| |
| |Usually cinacalcet or surgery in those that don't respond.
| |
| |} | | |} |
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| =Causes=
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| ===Common Causes===
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| *Post-surgical (most common cause)<ref name="pmid11117980">{{cite journal |vauthors=Marx SJ |title=Hyperparathyroid and hypoparathyroid disorders |journal=N. Engl. J. Med. |volume=343 |issue=25 |pages=1863–75 |year=2000 |pmid=11117980 |doi=10.1056/NEJM200012213432508 |url=}}</ref>
| |
| **[[Thyroidectomy]]
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| **[[Parathyroidectomy]]
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| **Radical neck dissection
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| *Autoimmune (2nd most common cause)<ref name="pmid15141045">{{cite journal |vauthors=Eisenbarth GS, Gottlieb PA |title=Autoimmune polyendocrine syndromes |journal=N. Engl. J. Med. |volume=350 |issue=20 |pages=2068–79 |year=2004 |pmid=15141045 |doi=10.1056/NEJMra030158 |url=}}</ref>
| |
| **Polyglandular autoimmune syndrome type 1
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| ***Also known as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy or APECED), or acquired hypoparathyroidism associated with autoimmune hypothyroidism
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| **Isolated autoimmune hypoparathyroidism
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|
| |
| ===Less Common Causes===
| |
| *Infiltration and/or destruction of parathyroid glands
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| **Metal overload
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| ***Iron overload
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| ****Hemochromatosis
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| ****Thalassemia (due to repeated blood transfusion)
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| ***Copper overload
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| ****Wilson's disease
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| ***Aluminium deposition
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| ****Usually seen in patients with end-stage renal disease on hemodialysis
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| ***Hypermagnesemia
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| **Radiation-induced destruction parathyroid glands
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| **Hypomagnesemia (reversible)
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| **Metastatic disease
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| **Granulomatous disease
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| ***Amyloidosis
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| **Syphilis
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| *Progressive systemic sclerosis
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| *Neonatal cause
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| **Maternal hyperparathyroidism
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| *Genetic causes
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|
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| ===Genetic Causes===
| |
| *'''Autoimmune hypoparathyroidism'''
| |
| *'''Isolated hypoparathyroidism'''
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| **'''Autosomal dominant inheritence'''
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| ***[[Autosomal dominant]] familial isolated hypoparathyroidism caused by PTH [[gene mutation]]<ref name="pmid2212001">{{cite journal |vauthors=Arnold A, Horst SA, Gardella TJ, Baba H, Levine MA, Kronenberg HM |title=Mutation of the signal peptide-encoding region of the preproparathyroid hormone gene in familial isolated hypoparathyroidism |journal=J. Clin. Invest. |volume=86 |issue=4 |pages=1084–7 |year=1990 |pmid=2212001 |pmc=296835 |doi=10.1172/JCI114811 |url=}}</ref>
| |
| ***[[Autosomal dominant inheritance|Autosomal dominant]] familial isolated hypoparathyroidism caused by glial cells missing 2 ([[GCM2]]) [[gene mutation]]<ref name="pmid18712808">{{cite journal |vauthors=Canaff L, Zhou X, Mosesova I, Cole DE, Hendy GN |title=Glial cells missing-2 (GCM2) transactivates the calcium-sensing receptor gene: effect of a dominant-negative GCM2 mutant associated with autosomal dominant hypoparathyroidism |journal=Hum. Mutat. |volume=30 |issue=1 |pages=85–92 |year=2009 |pmid=18712808 |doi=10.1002/humu.20827 |url=}}</ref>
| |
| ****[[Dominant negative mutation]]
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| ***[[Autosomal dominant hypocalcemia]]<ref name="pmid27803672">{{cite journal |vauthors=Roszko KL, Bi RD, Mannstadt M |title=Autosomal Dominant Hypocalcemia (Hypoparathyroidism) Types 1 and 2 |journal=Front Physiol |volume=7 |issue= |pages=458 |year=2016 |pmid=27803672 |pmc=5067375 |doi=10.3389/fphys.2016.00458 |url=}}</ref>
| |
| ****[[Autosomal dominant hypocalcemia]] type 1
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| *****[[Calcium-sensing receptor|Calcium-sensing]] receptor gene activating mutation.
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| *****'''Most common genetic form''' of hypoparathyroidism.
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| *****Also known as familial hypercalciuric hypocalcemia.
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| *****The activating mutation results in gain in function.
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| *****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.<ref name="pmid17048213">{{cite journal |vauthors=Vezzoli G, Arcidiacono T, Paloschi V, Terranegra A, Biasion R, Weber G, Mora S, Syren ML, Coviello D, Cusi D, Bianchi G, Soldati L |title=Autosomal dominant hypocalcemia with mild type 5 Bartter syndrome |journal=J. Nephrol. |volume=19 |issue=4 |pages=525–8 |year=2006 |pmid=17048213 |doi= |url=}}</ref><ref name="pmid25932037">{{cite journal |vauthors=Choi KH, Shin CH, Yang SW, Cheong HI |title=Autosomal dominant hypocalcemia with Bartter syndrome due to a novel activating mutation of calcium sensing receptor, Y829C |journal=Korean J Pediatr |volume=58 |issue=4 |pages=148–53 |year=2015 |pmid=25932037 |pmc=4414630 |doi=10.3345/kjp.2015.58.4.148 |url=}}</ref>
| |
| ****[[Autosomal dominant hypocalcemia]] type 2
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| *****G protein G11 (GNA11) mutation.
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| **'''Autosomal recessive inheritence'''
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| ***[[Autosomal recessive]] familial isolated hypoparathyroidism caused by PTH [[gene mutation]]<ref name="pmid10523031">{{cite journal |vauthors=Sunthornthepvarakul T, Churesigaew S, Ngowngarmratana S |title=A novel mutation of the signal peptide of the preproparathyroid hormone gene associated with autosomal recessive familial isolated hypoparathyroidism |journal=J. Clin. Endocrinol. Metab. |volume=84 |issue=10 |pages=3792–6 |year=1999 |pmid=10523031 |doi=10.1210/jcem.84.10.6070 |url=}}</ref>
| |
| ***[[Autosomal recessive]] familial isolated hypoparathyroidism caused by glial cells missing 2 ([[GCM2]]) [[gene mutation]]<ref name="pmid11602629">{{cite journal |vauthors=Ding C, Buckingham B, Levine MA |title=Familial isolated hypoparathyroidism caused by a mutation in the gene for the transcription factor GCMB |journal=J. Clin. Invest. |volume=108 |issue=8 |pages=1215–20 |year=2001 |pmid=11602629 |pmc=209530 |doi=10.1172/JCI13180 |url=}}</ref><ref name="pmid18712808">{{cite journal |vauthors=Canaff L, Zhou X, Mosesova I, Cole DE, Hendy GN |title=Glial cells missing-2 (GCM2) transactivates the calcium-sensing receptor gene: effect of a dominant-negative GCM2 mutant associated with autosomal dominant hypoparathyroidism |journal=Hum. Mutat. |volume=30 |issue=1 |pages=85–92 |year=2009 |pmid=18712808 |doi=10.1002/humu.20827 |url=}}</ref>
| |
| **'''X-linked inheritence'''
| |
| ***X-linked recessive familial isolated hypoparathyroidism
| |
| ****Caused by mutation in [[gene]] variant [[FHL1 (gene)|FHL1]] (exon 4, c.C283T, p.R95W) on chromosome locus Xq26-q27.<ref name="pmid28444561">{{cite journal |vauthors=Pillar N, Pleniceanu O, Fang M, Ziv L, Lahav E, Botchan S, Cheng L, Dekel B, Shomron N |title=A rare variant in the FHL1 gene associated with X-linked recessive hypoparathyroidism |journal=Hum. Genet. |volume=136 |issue=7 |pages=835–845 |year=2017 |pmid=28444561 |pmc=5487855 |doi=10.1007/s00439-017-1804-9 |url=}}</ref>
| |
| *'''Congenital multisystem syndromes'''
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| **'''[[DiGeorge syndrome]]'''<ref name="pmid21049214">{{cite journal |vauthors=Fomin AB, Pastorino AC, Kim CA, Pereira CA, Carneiro-Sampaio M, Abe-Jacob CM |title=DiGeorge Syndrome: a not so rare disease |journal=Clinics (Sao Paulo) |volume=65 |issue=9 |pages=865–9 |year=2010 |pmid=21049214 |pmc=2954737 |doi= |url=}}</ref>
| |
| ***[[Autosomal dominant inheritance]] pattern in present.
| |
| ***Presents with [[thymus]] [[dysfunction]], [[cardiac]] defects, [[immunodeficiency]], [[hypocalcemia]], and other clinical problems.
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| ***Caused by [[22q11.2 deletion syndrome|22q11.2 deletion]].
| |
| ***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]].
| |
| **'''[[CHARGE syndrome]]'''<ref name="pmid21995344">{{cite journal |vauthors=Jain S, Kim HG, Lacbawan F, Meliciani I, Wenzel W, Kurth I, Sharma J, Schoeneman M, Ten S, Layman LC, Jacobson-Dickman E |title=Unique phenotype in a patient with CHARGE syndrome |journal=Int J Pediatr Endocrinol |volume=2011 |issue= |pages=11 |year=2011 |pmid=21995344 |pmc=3216247 |doi=10.1186/1687-9856-2011-11 |url=}}</ref>
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| ***[[Autosomal dominant inheritance]] pattern in present.
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| ***Presents with [[coloboma]], [[heart]] defects, [[Choanal atresia|atresia choanae]], retarded growth and development, [[Genitourinary pathology|genitourinary abnormalities]], and [[ear]] anomalies and/or [[deafness]].
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| ***Caused by CHD7 G744S [[missense mutation]].
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| **'''Kenny-Caffey syndrome type 1'''<ref name="pmid23087875">{{cite journal |vauthors=Metwalley KA, Farghaly HS |title=Kenny-Caffey syndrome type 1 in an Egyptian girl |journal=Indian J Endocrinol Metab |volume=16 |issue=5 |pages=827–9 |year=2012 |pmid=23087875 |pmc=3475915 |doi=10.4103/2230-8210.100645 |url=}}</ref>
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| ***[[Autosomal recessive|Autosomal recessive inheritance]] pattern in present.
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| ***Deletion of the [[TBCE]] gene responsible for encoding a protein that participates in beta-tubulin folding.
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| ***Presents with [[hypoparathyroidism]] due to absent parathyroid tissue, growth retardation, medullary stenosis of tubular bones.
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| **'''Kenny-Caffey syndrome type 2'''<ref name="pmid23996431">{{cite journal |vauthors=Isojima T, Doi K, Mitsui J, Oda Y, Tokuhiro E, Yasoda A, Yorifuji T, Horikawa R, Yoshimura J, Ishiura H, Morishita S, Tsuji S, Kitanaka S |title=A recurrent de novo FAM111A mutation causes Kenny-Caffey syndrome type 2 |journal=J. Bone Miner. Res. |volume=29 |issue=4 |pages=992–8 |year=2014 |pmid=23996431 |doi=10.1002/jbmr.2091 |url=}}</ref>
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| ***[[Autosomal dominant inheritance]] pattern in present.
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| ***Mutation of “family with sequence similarity 111, member A″ (FAM111A) gene located on chromosome locus 11q12.1.
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| ***Patients with Kenny-Caffey sundrome type 2 have same clinical features as Kenny-Caffey syndrome type 1 except for mental retardation.
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| **'''Sanjad-Sakati syndrome'''<ref name="pmid22043344">{{cite journal |vauthors=Rafique B, Al-Yaarubi S |title=Sanjad-Sakati Syndrome in Omani children |journal=Oman Med J |volume=25 |issue=3 |pages=227–9 |year=2010 |pmid=22043344 |pmc=3191633 |doi=10.5001/omj.2010.63 |url=}}</ref>
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| ***Sanjad-Sakati syndrome in exclusively found in arabian descent population.
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| ***[[Autosomal recessive|Autosomal recessive inheritance]] pattern in present.
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| ***Mutation in [[TBCE]] gene.
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| ***Presents with hypoparathyroidism, [[intellectual disability]], [[Dysmorphic feature|dysmorphism]].
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| **'''[[Barakat syndrome]]'''<ref name="pmid11389161">{{cite journal |vauthors=Muroya K, Hasegawa T, Ito Y, Nagai T, Isotani H, Iwata Y, Yamamoto K, Fujimoto S, Seishu S, Fukushima Y, Hasegawa Y, Ogata T |title=GATA3 abnormalities and the phenotypic spectrum of HDR syndrome |journal=J. Med. Genet. |volume=38 |issue=6 |pages=374–80 |year=2001 |pmid=11389161 |pmc=1734904 |doi= |url=}}</ref><ref name="pmid10935639">{{cite journal |vauthors=Van Esch H, Groenen P, Nesbit MA, Schuffenhauer S, Lichtner P, Vanderlinden G, Harding B, Beetz R, Bilous RW, Holdaway I, Shaw NJ, Fryns JP, Van de Ven W, Thakker RV, Devriendt K |title=GATA3 haplo-insufficiency causes human HDR syndrome |journal=Nature |volume=406 |issue=6794 |pages=419–22 |year=2000 |pmid=10935639 |doi=10.1038/35019088 |url=}}</ref>
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| ***[[Autosomal recessive|Autosomal recessive inheritance]] pattern in present.
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| ***[[Mutation|Mutations]] in the [[GATA3]] gene
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| ***Also known as hypoparathyroidism, [[deafness]], and renal dysplasia (HDR) syndrome
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| ***Presents with primary hypoparathyroidism, nerve [[deafness]], steroid-resistant [[nephrosis]].
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| *'''Metabolic diseases'''
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| **Mitochondiral polyneuropathies<ref name="pmid27716753">{{cite journal |vauthors=Chow J, Rahman J, Achermann JC, Dattani MT, Rahman S |title=Mitochondrial disease and endocrine dysfunction |journal=Nat Rev Endocrinol |volume=13 |issue=2 |pages=92–104 |year=2017 |pmid=27716753 |doi=10.1038/nrendo.2016.151 |url=}}</ref>
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| ***Kearns–Sayre syndrome
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| ***Maternally inherited diabetes and deafness (MIDD)
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| **Mitochondrial enzyme deficiencies
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| ***Mitochondrial trifunctional protein deficiency (MTP deficiency)<ref name="pmid16523289">{{cite journal |vauthors=Labarthe F, Benoist JF, Brivet M, Vianey-Saban C, Despert F, de Baulny HO |title=Partial hypoparathyroidism associated with mitochondrial trifunctional protein deficiency |journal=Eur. J. Pediatr. |volume=165 |issue=6 |pages=389–91 |year=2006 |pmid=16523289 |doi=10.1007/s00431-005-0052-5 |url=}}</ref>
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| ***Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (LCHAD deficiency)<ref name="pmid9403664">{{cite journal |vauthors=Tyni T, Rapola J, Palotie A, Pihko H |title=Hypoparathyroidism in a patient with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency caused by the G1528C mutation |journal=J. Pediatr. |volume=131 |issue=5 |pages=766–8 |year=1997 |pmid=9403664 |doi= |url=}}</ref>
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| **Heavy metal storage disorders
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| ***Hemochromatosis<ref name="pmid24741460">{{cite journal |vauthors=Jeong HK, An JH, Kim HS, Cho EA, Han MG, Moon JS, Kim HK, Kang HC |title=Hypoparathyroidism and subclinical hypothyroidism with secondary hemochromatosis |journal=Endocrinol Metab (Seoul) |volume=29 |issue=1 |pages=91–5 |year=2014 |pmid=24741460 |pmc=3970271 |doi=10.3803/EnM.2014.29.1.91 |url=}}</ref>
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| ***Wilson's disease<ref name="pmid6888480">{{cite journal |vauthors=Carpenter TO, Carnes DL, Anast CS |title=Hypoparathyroidism in Wilson's disease |journal=N. Engl. J. Med. |volume=309 |issue=15 |pages=873–7 |year=1983 |pmid=6888480 |doi=10.1056/NEJM198310133091501 |url=}}</ref>
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|
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| =Symptoms=
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| *Clinical symptoms depends on two features:<ref name="pmid28138323">{{cite journal |vauthors=Abate EG, Clarke BL |title=Review of Hypoparathyroidism |journal=Front Endocrinol (Lausanne) |volume=7 |issue= |pages=172 |year=2016 |pmid=28138323 |pmc=5237638 |doi=10.3389/fendo.2016.00172 |url=}}</ref>
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| **Acuteness of hypocalcemia
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| **The absolute level of serum calcium
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| *Patients presents dramatically and tends to have more symptoms if there is an acute drop in serum calcium compared to patients with chronic hypocalcemia.<ref name="pmid8325292">{{cite journal |vauthors=Tohme JF, Bilezikian JP |title=Hypocalcemic emergencies |journal=Endocrinol. Metab. Clin. North Am. |volume=22 |issue=2 |pages=363–75 |year=1993 |pmid=8325292 |doi= |url=}}</ref>
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|
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| ===Common symptoms===
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| Common symptoms of hypoparathyroidism include:<ref name="pmid28138323">{{cite journal |vauthors=Abate EG, Clarke BL |title=Review of Hypoparathyroidism |journal=Front Endocrinol (Lausanne) |volume=7 |issue= |pages=172 |year=2016 |pmid=28138323 |pmc=5237638 |doi=10.3389/fendo.2016.00172 |url=}}</ref><ref name="pmid18535072">{{cite journal |vauthors=Cooper MS, Gittoes NJ |title=Diagnosis and management of hypocalcaemia |journal=BMJ |volume=336 |issue=7656 |pages=1298–302 |year=2008 |pmid=18535072 |pmc=2413335 |doi=10.1136/bmj.39582.589433.BE |url=}}</ref>
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| *Tetany (hallmark of acute hypocalcemia)
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| *Paresthesia in fingertips, toes, perioral area
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| *Carpopedal spasms
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| *Circumoral numbness
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| *Abdominal pain
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| *Biliary colic
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| *Dysphoria
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| *Fatigue
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| *Muscle cramps
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| *Myoclonic jerks
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| *New onset seizure due to hypocalcemia or worsening of seizures
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| *Painful menstruation
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|
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| ===Less common synptoms===
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| Less common symptoms of hypoparathyroidism include:<ref name="pmid28138323">{{cite journal |vauthors=Abate EG, Clarke BL |title=Review of Hypoparathyroidism |journal=Front Endocrinol (Lausanne) |volume=7 |issue= |pages=172 |year=2016 |pmid=28138323 |pmc=5237638 |doi=10.3389/fendo.2016.00172 |url=}}</ref><ref name="pmid18535072">{{cite journal |vauthors=Cooper MS, Gittoes NJ |title=Diagnosis and management of hypocalcaemia |journal=BMJ |volume=336 |issue=7656 |pages=1298–302 |year=2008 |pmid=18535072 |pmc=2413335 |doi=10.1136/bmj.39582.589433.BE |url=}}</ref>
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| *Cognitive impairment
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| *Decreased concentration
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| *Hoarseness (due to laryngospasm)
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| *Neuromuscular irritability
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| *Palpitations due cardiac dysarrhythmias
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| *Personality disturbances and/or mood changes
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| *Symptoms of acute cardiomyopathy
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| *Wheezing and dyspnea (due to bronchospasm)
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| *Electrocardiographic changes that mimic myocardial infarction, or congestive heart failure (decreased cardiac contractility is related to low serum calcium and possibly parathyroid hormone deficiency, as there are PTH receptors in cardiac myocytes).<ref name="pmid24919035">{{cite journal |vauthors=Kimura S, Yoshioka K |title=Parathyroid hormone and parathyroid hormone type-1 receptor accelerate myocyte differentiation |journal=Sci Rep |volume=4 |issue= |pages=5066 |year=2014 |pmid=24919035 |pmc=4052750 |doi=10.1038/srep05066 |url=}}</ref>
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|
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|
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| *Cardiac manifestations
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| **prolonged QT interval and T-wave alternans, , and congestive heart failure due to decreased cardiac contractility related to low serum calcium and possibly PTH deficiency, as there are PTH receptors in cardiac myocytes.
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|
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| =Differential Diagnosis=
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|
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|
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| {|
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| ! colspan="8" style="background: #4479BA; text-align: center;" |{{fontcolor|#FFF|Differential diagnosis of hyperparathyroidism on the basis of hypocalcemia}}
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| |-
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| | colspan="2" rowspan="2" style="background: #7d7d7d; text-align: center;" |{{fontcolor|#FFF|'''Disorders'''}}
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| | rowspan="2" style="background: #7d7d7d; text-align: center;" |{{fontcolor|#FFF|'''Mechanism of hypocalcemia'''}}
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| ! colspan="4" style="background: #7d7d7d; text-align: center;" |{{fontcolor|#FFF|Laboratory findings}}
| |
| |-
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| |style="background: #7d7d7d; text-align: center;" |{{fontcolor|#FFF|Serum PTH}}
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| |style="background: #7d7d7d; text-align: center;" |{{fontcolor|#FFF|Serum Calcium}}
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| |style="background: #7d7d7d; text-align: center;" |{{fontcolor|#FFF|Serum Phosphate}}
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| |style="background: #7d7d7d; text-align: center;" |{{fontcolor|#FFF|Other findings}}
| |
| |-
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| | colspan="2" style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''Hypoparathyroidism'''
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| | style="padding: 5px 5px; background: #F5F5F5;" |
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| *There is deficiency of parathyroid hormone in hypoparathyroidism.
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| *Deficiency of parathyroid hormone causes body to decrease:
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| **Reabsorption of calcium from bone.
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| **Excretion of phosphate.
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| **Reabsorbtion of calcium from distal tubules.
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| **Vitamin D mediated absorption of calcium from intestine.
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| | style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↓'''
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| | style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↓'''
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| | style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↑'''
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| | style="padding: 5px 5px; background: #F5F5F5;" |
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| *'''↓''' 1,25 Dihydroxy vitamin D
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| *Normal urinary cAMP
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| *Normal urinary phosphate
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| |-
| |
| | rowspan="5" style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''Pseudohypoparathyroidism''' <ref name="pmid23076042">{{cite journal |vauthors=Levine MA |title=An update on the clinical and molecular characteristics of pseudohypoparathyroidism |journal=Curr Opin Endocrinol Diabetes Obes |volume=19 |issue=6 |pages=443–51 |year=2012 |pmid=23076042 |pmc=3679535 |doi=10.1097/MED.0b013e32835a255c |url=}}</ref><ref name="pmid21816789">{{cite journal |vauthors=Mantovani G |title=Clinical review: Pseudohypoparathyroidism: diagnosis and treatment |journal=J. Clin. Endocrinol. Metab. |volume=96 |issue=10 |pages=3020–30 |year=2011 |pmid=21816789 |doi=10.1210/jc.2011-1048 |url=}}</ref><ref name="pmid25891861">{{cite journal |vauthors=Lee S, Mannstadt M, Guo J, Kim SM, Yi HS, Khatri A, Dean T, Okazaki M, Gardella TJ, Jüppner H |title=A Homozygous [Cys25]PTH(1-84) Mutation That Impairs PTH/PTHrP Receptor Activation Defines a Novel Form of Hypoparathyroidism |journal=J. Bone Miner. Res. |volume=30 |issue=10 |pages=1803–13 |year=2015 |pmid=25891861 |pmc=4580526 |doi=10.1002/jbmr.2532 |url=}}</ref>
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| | style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''Type 1a'''
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| | style="padding: 5px 5px; background: #F5F5F5;" |
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| *[[Genetic defect]] causing end organ resistance to the action of [[parathyroid hormone]] (PTH).
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| *[[Heterozygous]] ''[[GNAS1|GNAS]]'' inactivating mutations that reduce expression or function of Gα<sub>s</sub>
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| | style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↑'''
| |
| | style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↓'''
| |
| | style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↑'''
| |
| | style="padding: 5px 5px; background: #F5F5F5;" |
| |
| * '''↓''' 1,25 Dihydroxy vitamin D
| |
| * '''↓''' Urinary cAMP
| |
| * '''↓''' Urinary phosphate
| |
| |-
| |
| | style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''Type 1b'''
| |
| | style="padding: 5px 5px; background: #F5F5F5;" |
| |
| *[[Genetic defect]] causing end organ resistance to the action of [[parathyroid hormone]] (PTH).
| |
| *[[Familial]]- [[heterozygous]] deletions in ''[[STX16|STX]]16'', NESP55, and/or AS exons or loss of [[methylation]] at ''[[GNAS1|GNAS]]''
| |
| | style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↑'''
| |
| | style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↓'''
| |
| | style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↑'''
| |
| | style="padding: 5px 5px; background: #F5F5F5;" |
| |
| * '''↓''' 1,25 Dihydroxy vitamin D
| |
| * '''↓''' Urinary cAMP
| |
| * ↓ Urinary phosphate
| |
| |-
| |
| | style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''Type 1c'''
| |
| | style="padding: 5px 5px; background: #F5F5F5;" |
| |
| *[[Genetic defect]] causing end organ resistance to the action of [[parathyroid hormone]] (PTH).
| |
| *[[Heterozygous]] ''[[GNAS1|GNAS]]'' inactivating mutations that reduce expression or function of Gα<sub>s</sub>
| |
| | style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↑'''
| |
| | style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↓'''
| |
| | style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↑'''
| |
| | style="padding: 5px 5px; background: #F5F5F5;" |
| |
| * '''↓''' 1,25 Dihydroxy vitamin D
| |
| * '''↓''' Urinary cAMP
| |
| * '''↓''' Urinary phosphate
| |
| |-
| |
| | style="padding: 5px 5px; background: #DCDCDC;" align="center" |Type 2
| |
| | style="padding: 5px 5px; background: #F5F5F5;" |
| |
| *[[Genetic defect]] causing end organ resistance to the action of [[parathyroid hormone]] (PTH).
| |
| | style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↑'''
| |
| | style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↓'''
| |
| | style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↑'''
| |
| | style="padding: 5px 5px; background: #F5F5F5;" |
| |
| * '''↓''' 1,25 Dihydroxy vitamin D
| |
| * Normal urinary cAMP
| |
| * '''↓''' Urinary phosphate
| |
| |-
| |
| | style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''Pseudopseudohypoparathyroidism'''
| |
| | style="padding: 5px 5px; background: #F5F5F5;" |
| |
| *[[Genetic defect]] causing end organ resistance to the action of [[parathyroid hormone]] (PTH).
| |
| *Combination of inactivating mutations of ''[[GNAS1]]'' and [[Albright's hereditary osteodystrophy|Albright's osteodystrophy]]
| |
| | style="padding: 5px 5px; background: #F5F5F5;" align="center" |Normal
| |
| | style="padding: 5px 5px; background: #F5F5F5;" align="center" |Normal
| |
| | style="padding: 5px 5px; background: #F5F5F5;" align="center" |Normal
| |
| | style="padding: 5px 5px; background: #F5F5F5;" | --
| |
| |-
| |
| | colspan="2" style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''Hypomagnesemia'''<ref name="pmid26069819">{{cite journal |vauthors=Jahnen-Dechent W, Ketteler M |title=Magnesium basics |journal=Clin Kidney J |volume=5 |issue=Suppl 1 |pages=i3–i14 |year=2012 |pmid=26069819 |pmc=4455825 |doi=10.1093/ndtplus/sfr163 |url=}}</ref><ref name="pmid227929">{{cite journal |vauthors=Freitag JJ, Martin KJ, Conrades MB, Bellorin-Font E, Teitelbaum S, Klahr S, Slatopolsky E |title=Evidence for skeletal resistance to parathyroid hormone in magnesium deficiency. Studies in isolated perfused bone |journal=J. Clin. Invest. |volume=64 |issue=5 |pages=1238–44 |year=1979 |pmid=227929 |pmc=371269 |doi=10.1172/JCI109578 |url=}}</ref>
| |
| | style="padding: 5px 5px; background: #F5F5F5;" |
| |
| *Decreased parathyroid hormone (PTH) secretion
| |
| *Skeletal resistance to PTH
| |
| | style="padding: 5px 5px; background: #F5F5F5;" align="center" |Inappropriately '''↓'''
| |
| | style="padding: 5px 5px; background: #F5F5F5;" align="center" |Normal/'''↓'''
| |
| | style="padding: 5px 5px; background: #F5F5F5;" align="center" | --
| |
| | style="padding: 5px 5px; background: #F5F5F5;" |
| |
| * '''↓''' serum magnesium
| |
| * '''↓'''/Normal serum potassium
| |
| |-
| |
| | colspan="2" style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''Hypoalbuminemia'''
| |
| | style="padding: 5px 5px; background: #F5F5F5;" |
| |
| *Majority of calcium in blood is bound to albumin. So when there is a decrease in concentration of albumin due to any condition, there is a relative hypocalcemia as well.
| |
| | style="padding: 5px 5px; background: #F5F5F5;" align="center" | --
| |
| | style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↓'''
| |
| | style="padding: 5px 5px; background: #F5F5F5;" align="center" | --
| |
| | style="padding: 5px 5px; background: #F5F5F5;" |
| |
| * '''↓''' serum albumin
| |
| *Normal albumin-corrected serum total calcium
| |
| *Normal ionised calcium
| |
| |-
| |
| | colspan="2" style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''Hypovitaminosis D'''
| |
| | style="padding: 5px 5px; background: #F5F5F5;" |
| |
| *Decrease in vitamin D meediated calcium absorption from gut.
| |
| | style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↑'''
| |
| | style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↓'''
| |
| | style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↓'''/Low-normal
| |
| | style="padding: 5px 5px; background: #F5F5F5;" |
| |
| * '''↓''' 25 Hydroxy vitamin D
| |
| |-
| |
| | colspan="2" style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''Chronic kidney disease'''
| |
| | style="padding: 5px 5px; background: #F5F5F5;" |
| |
| *[[Chronic renal failure]] leads to high serum [[inorganic phosphate]] and low serum [[calcium]] and deficiency of active form of [[vitamin D]] ([[1,25-dihydroxy vitamin D]]/[[calcitriol]])
| |
| | style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↑'''
| |
| | style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↓'''/Normal
| |
| | style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↑'''
| |
| | style="padding: 5px 5px; background: #F5F5F5;" |
| |
| * '''↓''' Glomerular flitration rate
| |
| |}
| |
| ==References== | | ==References== |
| | {{reflist|2}} |