Letsoalo la lefu la tsoekere la Herederal phosphate (vithamine D e hanyetsang, hypophosphatemic, rickets)

Lefu la tsoekere la phosphate ke lefutso le sa amaneng le tlolo ea tlhahiso ea "insulin" makhophong le bongata ba tsoekere maling. Lefu lena le bakoa ke metabolism e sa lokang ea vithamine D, hammoho le phosphates. Ka ts'oaetso ea lefu la tsoekere la phosphate, ha ho na mokhoa oa ho khutlisetsa lintho tsena ka har'a lipompo tsa masapo, 'me lisele tsa masapo li tšoauoa ka tšebeliso e fosahetseng ea khemikhale.

Lefu la tsoekere le phosphate le bonahala joang ho bana?

Hypophosphatemic rickets e qala ho bonahala ho bana ba sa le banyenyane. Hangata, matšoao a pele a hlaha selemong sa pele kapa selemong se latelang, ha ngoana a sa tsoa qala ho itsamaela ka bolokolohi. Lefu la tsoekere la phosphate ha le ame boemo ba motho ka kakaretso.

1. Ho na le ho khutla ho hoholo.
2. Maoto a sothile.
3. Manonyeletso a mangole le maqaqailana a holile.
4. Masapo a sebakeng sa manonyeletso a letsoho a boreleli.
5. Fokotsa molumo oa mesifa.
6. Nakong ea palpation, bohloko mokokotlong le masapo lia utloahala. Ho tšoha ho tebileng ho ka etsa hore ngoana a khaotse ho itsamaela ka maoto ka boeona.
7. Maemong a sa tloaelehang, bofokoli ba enamel menoana, li-rickets tsa lesapo la mokokotlo kapa masapo a pelvic lia bonahala.
8. Spasmophilia, e leng tšobotsi ea li-rickets tse nang le khaello ea vithamine D, e ka ba teng.
9. Matsoho a lesea le lecha a ka khutsufatsoa (hangata ka tsela e sa lekanyetsoang).
10. Ha motho a le lilemo li ngata, o ba le osteomalacia.
11. Litšoantšo tsa X-ray li bontša nts'etsopele ea osteoporosis, skeleton e thehiloe morao haholo.
12. Ka tloaelo calcium e phahameng haholo masapong.
13. Sebopeho sa li-electrolyte, li-amino acid tsa mali, creatinine, CBS ha e fetoloe.

Ngoana o hloka palo e kholo ea lintho tse thusang le tse fanang ka phepo e nepahetseng, ho kenyelletsa phosphorus le calcium, bakeng sa khōlo e tloaelehileng le kholo. Ho haella ha lintho tsena nakong ea lilemo tsa pele tsa bophelo ho hlalosa ho teba ha lefu lena.

Mefuta e fapaneng ea ponahatso ea lefu lena

Lefu la tsoekere la phosphate, ho latela karabelo ea ho hlahisoa ha vithamine D le khethiloe ka tsela e latelang:

1. E tšoauoa ka karolo e eketsehang ea phosphates e sa sebetseng maling, e ileng ea hlaha ka lebaka la ho eketsoa hape ha methapo ea kutlo.
2. E tšoauoa ka ho eketseha ho eketsehileng ha phosphates ka mpeng le liphio.
3. Reabsorption e ba matla le ho feta ka mpeng feela.
4. Lefu la tsoekere la phosphate le na le kutloisiso e eketsehileng ea vithamine D. Le litekanyetso tse nyane tsa ntho ena li ka baka tahi.

Lingoloa tsa setsebi sa bongaka

Herederal phosphate lefu la tsoekere ke sehlopha se matla sa maloetse a lefutso a nang le phepo e matla ea phosphates le vithamine D. Hypophosphatemic rickets ke lefu le tšoauoang ke hypophosphatemia, khaello ea khalsiamo e nang le calcium le li-rickets kapa osteomalacia, e sa tsotelleng vithamine D. Matšoao a kenyelletsa bohloko ba masapo, masenke le mathata. kholo. Ts'oaetso e ipapisitse le qeto ea serum phosphate, alkaline phosphatase le maemo a 1,25-dihydroxyvitamin D3. Phekolo e kenyelletsa ho kenella ha phosphates le calcitriol.

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Lisosa le pathogenesis ea lefu la tsoekere

Family hypophosphatemic rickets e fumana lefa ka mofuta o hokahaneng oa X o kopantsoeng. Maemo a li-bracosphatemic rickets tse fumanehang ka linako tse ling ka linako tse ling a amahanngoa le tumello ea benign mesenchymal tumors (oncogenic rickets).

Motheo oa lefu lena ke ho fokotseha ha reabsorption ea phosphates ho proximal tubules, e lebisang ho hypophosphatemia. Bofokoli bona bo hlaha ka lebaka la ho potoloha ha lintho 'me bo amahanngoa le litlolo tsa mantlha tšebetsong ea osteoblast. Ho boetse ho na le ho fokotseha ha motsoako oa ka mpeng oa calcium le phosphate. Ho haelloa ke matla a masapo a masapo ho bohlokoa haholo ka lebaka la phosphate le ho se sebetse hantle ha masapo a mafura ho feta ka lebaka la tekanyo e tlase ea khalsiamo le litekanyetso tse eketsehang tsa lihormone tsa parathyroid ka li-rickets tse nang le calcium. Kaha boemo ba 1,25-dihydroxycholecalciferol (1,25-dihydroxyvitamin D) bo tloaelehile kapa bo fokotsehile hanyane, sekoli sebopeho sa mefuta e mafolofolo ea vithamine D se ka nahanoa, ka tloaelo hypophosphatemia e lokela ho baka keketseho ea tekanyo ea 1,25-dihydroxyvitamin D.

Hypophosphatemic rickets (phosphate lefu la tsoekere) ea hlaha ka lebaka la ho fokotseha ha phosphate reabsorption ho li-proximal tubules. Ts'ebetso ena ea tubular e bonoa e le thoko, mofuta oa lefa o matla, o hokahane le X chromosome. Ntle le moo, lefu la tsoekere la phosphate ke e 'ngoe ea likarolo tsa lefu la Fanconi.

Lefu la tsoekere la paraneoplastic phosphate le bakoa ke tlhahiso ea "cell" ea parathyroid ke lisele tsa tumor.

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Matšoao a lefu la tsoekere la Phosphate

Hypophosphatemic rickets e iponahatsa e le letoto la mathata, ho tloha ho asymptomatic hypophosphatemia ho ea lieha ho holisa 'mele le ho hola hanyane ho fihlela tleliniking ea li-rickets tse matla kapa osteomalacia. Hangata lipontšo tsa bana li fapana kamora hore ba qale ho tsamaea, li ba le methapo e meholo ea O le maoto le masapo a mang a masapo, li-pseudo-fractures, bohloko ba masapo le bolelele ba nakoana. Ho hola ha mothapo libakeng tsa sehokelo sa mesifa ho ka fokotsa ho sisinyeha. Ka li-ricoph tsa hypophosphatemic, li-rickets tsa lesapo la mokokotlo kapa lesapo la mokokotlo, bofokoli ba enamel ea meno le spasmophilia, e hlahisoang ka li-rickets tse haelloang ke vithamine D, ha li bonoe hangata.

Bakuli ba lokela ho tseba boemo ba calcium, phosphates, alkaline phosphatase le 1,25-dihydroxyvitamin D le HPT ho serum, hammoho le urine phosphate excretion. Ka li-ricoph tsa hypophosphatemic, boemo ba phosphates bo serum ea mali bo fokotsehile, empa ho pepeseha ha bona ka har'a moroto ho phahame. Mefuta ea calcium ea Serum le PTH e tloaelehile, 'me phofo ea alkaline hangata e phahame. Ka li-rickets tse haelloang ke calcium, hypocalcemia e bonoa, ha ho na hypophosphatemia kapa e bonolo, tlhahiso ea phosphates ka moroto ha e eketsehe.

Hypophosphatemia e se e fumanoe ho sa tsoa hlaha. Ka selemo sa 1-2 sa bophelo, matšoao a lefu lena a hlaha: ho khutla ho honyenyane, bofokoli bo matla ba likarolo tse tlase. Bofokoli ba mesifa bo bobebe kapa ha bo eo. Maoto a makatsang a makatsang a na le tšobotsi. Ho batho ba baholo, osteomalacia ea fetoha butle-butle.

Ho fihla joale, mefuta e 4 ea mathata a futsitsoeng ho li-rickets tsa hypophosphatemic e se e hlalositsoe.

Mofuta oa 1 - hypophosphatemia e amanang le X - li-rickets tse loantšang vithamine D (hypophosphatemic tubulopathy, hypophosphatemia, lefutso la lefutso, lefu la tsoekere la phosphate, lefu la tsoekere la phosphate le lelapa le tsoelang pele, lefu la lipeo tsa lefutso la Albert Blairt) ka lebaka la ho fokotseha ha phosphate reabsorption ho proximal renal tubule mme e bonahatsoa ke hyperphosphaturia, hypophosphatemia le nts'etsopele ea liphetoho tsa mofuta o moholo tse tšoanang le litekanyetso tse tloaelehileng tsa vithamine. D.

Ho nahanoa hore ka li-ricotes tsa hypophosphatemic tse kopantsoeng le X, tsamaiso ea ts'ebetso ea 1-a-hydroxylase e nang le phosphate e senyehile, e bonts'ang sekoli ho motsoako oa vithamine D metabolite 1.25 (OH) 2D3. Khokahano ea l, 25 (OH) 2D3 ho bakuli e fokotsoa ka mokhoa o sa lekanang bakeng sa tekanyo e teng ea hypophosphatemia.

Lefu lena le iponahatsa ho fihlela lilemo tse peli tsa bophelo. Matšoao a tsebahalang haholo:

• kholo e makatsang, squat, matla a maholo a mesifa, ha ho na hypoplasia ea enamel ea meno a sa feleng, empa ho na le li-extensions tsa sebaka sa pulp, alopecia,
• hypophosphatemia le hyperphosphaturia le calcium e tloaelehileng ea mali le mosebetsi o eketsehileng oa alkaline phosphatase,
• ho holofala leoto leoto (ha a qala ho tsamaea),
• Liphetoho tsa "X-ray" joalo ka masapo masapong - ho pharalla ho pharaletseng ha mokokotlo, mokhoa o rarahaneng oa trabeculae, osteoporosis, ho fokola ha masapo a tlase, ho lieha ho theha skeleton, botlalo ba khalsiamo e teng skeleton.

Ho kenyelletsoa ha phosphates lipelong ho fokotseha ho fihla ho 20-30% kapa ka tlase ho moo, tlhahiso ea phosphorus ka har'a moroto e eketseha ho isa ho 5 g / ka letsatsi, ts'ebetso ea alphaline phosphatase e eketseha (makhetlo a 2-4 ha e bapisoa le e tloaelehileng). Hyperaminoaciduria le glucosuria ha li sebetse. K'halsiamo ea calcium ha e fetoloe.

Ho na le mefuta e 4 ea kliniki le ea biochemical ea lefu la tsoekere ho ea ka karabelo ea ho hlahisoa ha vithamine D. Karolong ea pele ea pele, keketseho ea litaba tsa "phosphates" e hlophisitsoeng maling nakong ea kalafo e amahanngoa le keketseho ea ho ts'oaroa ha tsona botoneng ba renal tubules, ho ea bobeli, phosphate reabsorption ka liphio le mala e ntlafatsoa. - Reabsorption e eketsehileng e hlaha feela ka mpeng, 'me ea bone, kutloisiso ea vithamine D e eketseha haholo, hoo le hore litekanyetso tse nyane tsa vithamine D li baka matšoao a tahi.

Mofuta oa II - mofuta oa li-hypophosphatemic rickets - ke 'muso o ikemetseng o sa amaneng le lefu la X chromosome. Lefu lena le tšoauoa ka:

• ho qala ha lefu lena a le lilemo li 1-2,
• maoto a malelele ka ho qala ho tsamaea, empa ntle le ho fetoha bophahamo, mmele o matla, bofokoli ba marapo,
• hypophosphatemia le hyperphosphaturia e nang le maemo a tloaelehileng a khalsiamo le keketseho e leka-lekaneng ea ts'ebetso ea alkaline phosphatase,
• X-ray: matšoao a bonolo a li-rickets, empa ka osteomalacia e matla.

Ha ho na liphetoho phetohong ea li-electrolyte, CBS, khatello ea lihormone tsa parathyroid, sebopeho sa li-amino acid, boemo ba creatinine le nitrogen e setseng serapeng. Liphetoho tsa moroto ha li senyehe.

Mofuta oa boraro - ho itšetleha ka "autosomal recessive" ho feta ka vithamine D (li-hypocalcemic rickets, osteomalacia, hypophosphatemic vithamine D tse itšetlehileng ka aminoacidia le aminoaciduria). Sesosa sa lefu lena ke tlolo ea sebopeho sa 1.25 (OH) 2D3 lipelong, e lebisang ho kenngoeng ha calcium ka mpeng le phello e tobileng ea vithamine D ho li-receptor tse khethehileng tsa masapo, hypocalcemia, hyperaminoaciduria, sekhahla hyperparathyroidism, phosphorus reabsorption le hypophosphatemia.

Ho qala ha lefu lena ho bolela lilemo tse likhoeli tse tšeletseng. ho fihlela ho lilemo tse 2 Matšoao a tsebahalang haholo:

• thabo, ho ferekana, ho tsitsipana,
• hypocalcemia, hypophosphatemia, hyperphosphaturia le ts'ebetso e eketsehileng ea alphaline phosphatase maling. E eketsoa ke li-hormone tsa plasma parathyroid, mme li-aminoaciduria tse akaretsang le sekoli li boetse li bonoa, ka linako tse ling e le lekoala la ho ntša metsi ka moroto,
• ho lieha ho qala ho tsamaea, ho ts'oha, ho holofala ho hoholo ka potlako, bofokoli ba mesifa, hypelopelia ea enamel, litlolo tsa meno,
• X-ray e ile ea senola li-rickets tse matla libakeng tsa kholo ea masapo a malelele a tubular, tšesaane ea mokokotlo oa cortical, tšekamelo ea lefu la ho fokola ha masapo. Ha ho na phetoho ho CBS, litaba tsa naetrojene e setseng, empa khatello ea l, 25 (OH) 2D3 maling e fokotsehile haholo.

Mofuta oa IV - khaello ea vithamine D3 - o futsoa ka tsela e amohelang maikutlo kapa ea hlaha ka nako, banana ba kula haholo. Ho qala ha lefu lena ho bonoa bongoaneng, ho bontšoa ke:

• maoto le matsoho, deformation ea skeleton, cramp,
• khafetsa alopecia 'me ka linako tse ling meno anomatic,
• X-ray e senotse li-rickets tsa maemo a fapaneng.

Tlhahlobo ea lefu la tsoekere

E 'ngoe ea matšoao a belaellang lefu la tsoekere la phosphate ke ho se sebetse ha litekanyetso tse tloaelehileng tsa vithamine D (2000-5000 IU / letsatsi) ho ngoana ea nang le li-rickets. Leha ho le joalo, poleloana e reng "vithamine D e loantšang", eo pele e neng e sebelisetsoa lefu la tsoekere, ha e ea nepahala.

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Tlhahlobo e fapaneng ea lefu la tsoekere la phosphate

Hoa hlokahala ho khetholla lefu la tsoekere la lefutso le li-rickets tse haelloang ke vithamine D, e iphumaneleng kalafo e rarahaneng, de Toni-Debre-Fanconi syndrome, lefu la masapo le sa foleng le sa foleng.

Ha matšoao a lefu la tsoekere a phosphate a etsahala ka lekhetlo la pele ho motho e moholo, oncogenic hypophosphatemic osteomalacia e lokela ho nahanoa. Phapang ena ea paraneoplastic syndrome e bonoa metsong e mengata, ho kenyelletsa le letlalo (dysplastic nevi).

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Liphetho le mathata a ka bang teng

Lefu la tsoekere la phosphate ke lefu le kotsi le ke keng la hlokomolohuoa. Ho seng joalo, ho ka hlaha mathata a sa batleheng esita le a kotsi.

Tsena li kenyeletsa:

1. Boemo ba 'mele boa senyeha,' me masapo a ka fokotsoa haeba motho a tšoeroe ke lefu la tsoekere phosphate.
2. Ngoana ea nang le lefu le tšoanang o lula a holile kholisong (ka kelellong le 'meleng).
3. Mokuli a ka holofala ka lebaka la phokotso ea bofokoli ba sefahleho le masapo haeba kalafo e lekaneng e sa fumanehe.
4. Nako le tatellano ea teething ka lehanong la ngoana e tlotsoe.
5. Pathology ea sebopeho sa enamel e senoloa.
6. Bakuli ba ka ba le tahlehelo ea kutlo ka lebaka la nts'etsopele e sa lokelang ea masapo a tsebe a bohareng.
7. Ho na le kotsi ea nephrocalcinosis. Lefu lena le tšoauoa ka ho kenngoa ha letsoai la khalsie lipelong, ka lebaka leo ho ka bakang litho tsa methapo ea setho.
8. Lefu la tsoekere la phosphate, le fumanoeng ho basali, le ka mpefatsa nako ea kemolo le ho baka karolo ea cesarean.

Liphello tsa lefu lena ntle le kalafo e lekaneng li sala li le teng bophelo bohle. Ka ntle, mathata a lefu la tsoekere la phosphate a bontšoa ke ho hola ha maoto le ho pharalla ha maoto.

Thibelo ea Maloetse

Lefu la tsoekere la phosphate ke lefu le fetisoang hoo e ka bang maemong 'ohle ho tloha ho batsoali ba kulang ho ea ho bana. Haeba ponahalo ea eona e bakiloe ke lefutso, motho kapa ngaka e 'ngoe le e' ngoe e tšoanelehang e ke ke ea susumetsa nts'etsopele ea eona 'me ea qhelela ka thoko kotsi ea lefu.

Ho thibela ts'oaetso ea lefu lena ho etselitsoe haholo ho thibela ho hlaha ha litlamorao le ho fokotsa kotsi ea phetoho ea masapo ho bakuli ba lilemo tse fapaneng.

Mehato ena e kenyelletsa tse latelang:

1. Ho bohlokoa hore batsoali ba se ke ba fetoa ke matšoao a lefu lena. Ho bohlokoa ho ikopanya le setsebi hang-hang bakeng sa thuso e le ho tseba lefu la tsoekere phosphate methating ea pele ea kholo le ho qala kalafo e nepahetseng.
2. Ela hloko bana khafetsa ka lefu lena ho ngaka ea bana le lingaka.
3. E-ba le tlhahlobo ea liphatsa tsa lefutso 'me u etse tlhahlobo e hlokahalang nakong ea kemiso ea bokhachane bakeng sa lelapa le leng le le leng moo beng ka bona ba haufi ba neng ba e-na le lefu le tšoanang la bongoana. Sena se tla lumella batsoali hore ba hlokomele likotsi le mathata a ka hlahang ao ngoana ea e-s'o tsoaloe a ka bang le 'ona ho itokisetsa ho qala kalafo ea lefu lena ka nako e tlang.