Hereditary phosphate diabetes (vit-D-resistant, hypophosphatemic, rickets)

ʻO ka maʻi Ph Phoseate he ʻano palaka e pili ʻole i ka hana hewa ʻana i ka hana o ka insulin i ka pancreas a me ka nui o ka glucose i loko o ke koko. Hoʻopilikia kēia maʻi mai ka metabolism kūpono ʻole o ka vitamin D, a me nā phosphates. Me ka loaʻa ʻana o kahi maʻi diabetes phosphate, ʻaʻohe ʻano ʻē aʻe o kēia mau mea i loko o nā tubula renal, a ua hōʻike ʻia ka iwi iwi me ka hōʻulu kino maʻi ʻana.

Pehea e hōʻike ʻia ai ka maʻi diabetes phosphate i nā keiki?

Hoʻomaka ka ʻōhule o nā hypyposphatemic i nā keiki i ke wā ʻōpio. ʻO ka pinepine, ʻo nā hōʻailona mua i ka makahiki mua a i ʻole ma hope o ka makahiki e hiki mai ana, ke hoʻomaka wale nei ke keiki e hele kūʻokoʻa. ʻAʻole pili ke kuʻuna o ka pospateka i ke kūlana maʻamau o kahi kanaka.

1. Aia ka ulu ʻana o ka ʻala.
2. Hoʻopiʻi nā wāwae.
3. Ua hoʻohālikelike ka ʻōpū a me ke kuli.
4. ʻO nā iwi i loaʻa ma kahi o nā kuʻekuʻe lima lima e mānoanoa.
5. Hoʻemi ʻia ke kani kani.
6. I ka wā palpation, ʻeha ka ʻeha ma ke kua a me nā iwi. Hiki i ke ʻeha koʻikoʻi ke hoʻowalewale i ke keiki e hoʻōki kūʻokoʻa i kona mau wāwae.
7. I nā hihia liʻiliʻi, ʻike ʻia nā pale o ka enamel ma nā niho, ʻike ʻia nā ʻikepili i nā iwi spine a i ʻole nā ​​pelvic.
8. ʻO ka spasmophilia, keʻano o ka rickets me ka liʻiliʻi o ka vitamina D e ulu paha.
9. Hiki ke hōʻoki ʻia nā limū o ka pēpē hou (pinepine pinepine i ka wā ʻaʻole).
10. Me ka nui o ka makahiki, kūkulu ka mea maʻi i ka osteomalacia.
11. Hōʻike nā kiʻi X-ray i ka hoʻomohala ʻana o ka osteoporosis, ua hana ʻia ka ʻōpala i ke ahiahi.
12. ʻO ka calcium kiʻekiʻe i nā iwi.
13. ʻO ka hoʻonohonohoʻana o nā electrolytes, acid amino acid, creatinine, CBS ʻaʻole i hoʻololi ʻia.

Pono ke keiki i kahi nui o nā mea pono a me nā mea e pono ai, ʻo ia hoʻi ka fosfor a me ka calcium, no ka hana maʻamau a me ka ulu ʻana. ʻO ka nele o kēia mau mea i nā makahiki mua o ke ola e wehewehe i ka nui o ka maʻi.

Nā ʻano o ka hōʻike o ka maʻi

ʻO ka maʻi diabetes Phropate, ma muli o ka hopena o ka hoʻokumu ʻana i ka vitamina D ua helu ʻia penei:

1. Kuhi ʻia ia e ka hoʻonui hoʻonui ʻia o ka phosphates inorganic i loko o ke koko, i ʻike ʻia ma muli o ka hoʻonui nui o ka reabsorption i loko o ka renal tubules.
2. Hāʻawi ʻia e ka hoʻonui nui reabsorption o nā phosphates i loko o nā ʻolina a me nā pōpoki.
3. Hoʻokomo ʻia ʻo Reabsorption wale nō i loko o nā pūpū.
4. ʻO ka maʻi diabetes Phropate ka nui o ka hoʻoulu ʻana i ka vitamina D. ʻO nā liʻiliʻi liʻiliʻi o kēia mea hiki ke hoʻowalewale i ka make.

ʻAtikala lāʻau lapaʻau

ʻO ka maʻi maʻi phosphate Hereditary he pūʻulu heterogeneous o nā maʻi hoʻoilina me ka metabolism hōʻole o ka phosphates a me ka vitamina D. Hypophosphatemic rickets kahi maʻi e hōʻailona ana e ka hypophosphatemia, pākuhi huahuna ʻaʻala a me nā rickets a me ka osteomalacia, ʻaʻole i paipai i ka vitamin D. ʻO nā wili e pili ana i ka ʻeha o nā iwi, nā hōʻeha a me nā pilikia ʻole. ulu. Kūkulu ʻia ka maʻi ma muli o ka hoʻoholo ʻana o ka serat phosphate, alkatine phosphatase a me 1,25-dihydroxyvitamin D3 mau pae. Hoʻokomo ka hoʻomaʻemaʻe i ka hoʻomaʻemaʻe ʻana o nā phosphates a me ka calcitriol.

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Nā kumu a me nā pathogenesis o ka hoʻomehana diabetes

Nā hoʻoilina ʻohana hypophosphatemic i hoʻoili ʻia e ka ʻano mana aliʻi X-pili. ʻO nā hihia o ka sporadic i loaʻa i ka hypophosphatemic rickets i kekahi manawa me ka benign mesenchymal tumors (oncogen rickets).

ʻO ke kumu o ka maʻi he hōʻemi i ka reabsorption o nā phosphates i nā paila primalima, e alakaʻi ana i ka hypophosphatemia. Hoʻoulu kēia hemahema ma muli o ka lula ʻana a me ke pili pū me nā abnormalities mua i ka hana osteoblast. Aia nō hoʻi ka emi o ka hoʻopili o ka wahī i ka calcium a me ka phosphate. ʻOi aku ka nui o ka mineralization o nā iwi i hoʻopiʻi ʻia ma muli o nā haʻahaʻa haʻahaʻa o ka phosphate a me ka hana ʻana o osteoblasts ma mua o nā haʻahaʻa haʻahaʻa haʻahaʻa a hoʻonui i nā pae o ka hormone parathyroid i ka nui o ka calcium ruffets. No ka mea ʻo ka pae o 1,25-dihydroxycholecalciferol (1,25-dihydroxyvitamin D) o ka maʻamau a i ʻole ka liʻiliʻi, he hemahema i ka hoʻokumu ʻana i nā ʻano hana ikaika o ka vitamina D hiki ke hāpai ʻia, maʻamau hypophosphatemia e hōʻea i kahi kiʻekiʻe o ka 1,25-dihydroxyvitamin D.

Hoʻokumu ka hypyposphatemic rickets (phosphate diabetes) ma muli o ka kahe ʻana o ka reabsorption phosphate i nā pōʻai proximal. Hoʻomaopopo ʻia kēia homa neʻe i loaʻa me ka noho kaawale, ke ʻano o ke ʻano o nā hoʻoilina, pili i ka chromosome X. Eia kekahi, ʻo ka maʻi diabetes phosphate kekahi o nā mea pono o ka maʻi Fanconi.

ʻO ka diabetes pateoplastic phosphate e hoʻoulu ʻia e ka hoʻouluʻana i ka maʻi like-ka like o ka parathyroid-like me nā aʻa.

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Hoʻomaopopo o ka Phosphate Diabetes

Hōʻike ʻo hyproposphatemic rickets iā ia iho me kahi palaka o nā pilikia, mai asymptomatic hypophosphatemia e lohi i ka hoʻomohala kino a hōʻemi i ka ulu kino a me ka ulu kino ʻana i ka haukapila nui o nā rickets a i ʻole oomomalacia. Hoʻomaʻamaʻa nā ʻano hoʻohālikelike o nā keiki ma hope o ka hoʻomaka ʻana o lākou e hele, kūkulu lākou i ka ʻaoʻao o ka wāwae a me nā ʻano like ʻole o nā iwi, nā pseudo-fractures, ka ʻeha ʻeha a me nā pōkole. Hiki i nā mea hoʻokalakupua i nā mākona hakakā ke hiki ke hoʻopau i ka neʻe. Me nā rickets hypophosphatemic, nā rickets o ka spine a i ʻole paha nā pelvic, nā hemahe i loko o ka enamel niho a me spasmophilia, ka mea e ulu ai me nā huaora D-defuff rickets, ka nānā pinepine ʻole i nānā.

Pono ka mea maʻi e hoʻoholo i ka pae o ka calcium, phosphates, phosphatase alkaline a me 1,25-dihydroxyvitamin D a me HPT i ka serum, me ka urinary phosphate excretion. Me nā rickets hypophosphatemic, ua hoʻemi ʻia ka nui o nā phosphates i loko o ka serum koko, akā kiʻekiʻe ko lākou excretion i ka urine. ʻO ka maʻa Serum a me nā pae o ka PTH he maʻamau, a hoʻonui pinepine i ka alkatine phosphatase. Me nā rickets me ka hapa ʻole o ka calcium, ua hōʻike ʻia ka hypocalcemia, ʻaʻohe hypophosphatemia a he ʻoluʻolu naʻe, ʻaʻole i hoʻonui ʻia nā ʻōpū o nā phosphates i loko o ka urine.

Ua ʻike ʻia ka hypyposphatemia ma loko o ka pēpē. I nā makahiki 1-2 o ke ola, e hoʻomohala ʻia nā ʻōmaʻomaʻo o ka maʻi: ke kuʻi ʻana i ka ulu, nā deformities kino o nā hopena haʻahaʻa. ʻO ka palupalu o ka ʻōpū a hele wale ʻole paha. ʻO nā wāwae liʻiliʻi pōkole ke ʻano. I nā pākeke, holomua nā osteomalacia.

I kēia manawa, ua hōʻike ʻia nā ʻano kīnā he 4 i hoʻoili ʻia i loko o nā mauʻu hypophosphatemic.

ʻ Ilelo I - X-pilina hypophosphatemia - hua manu Rickets ātete (hypophosphatemic tubulopathy, hypophosphatemia familial, maʻi maʻamau phate diabetes, maʻi kuhi, ka maʻi maʻamau, ka maʻi maʻamau i ka maʻi diabetes, ka maʻi tubula rula, nā maʻi Albert Blairt) ma muli o ka emi ʻana o ka reabsorption phosphate i ka pro tubimal renule proximal a hōʻike ʻia e ka hyperphosphaturia, hypophosphatemia a me ka hoʻomohala ʻana o nā loli like-rickets e kū'ē i nā dosis maʻamau o ka mauʻu D.

Ua manaʻo ʻia ua like me X-link hypophosphatemic rickets, kahi o ka hoʻoponopono i ka hana o ka 1-a-hydroxylase me ka phosphate i nele i ka maʻi, e hōʻike ana i kahi hewa i loko o ke kāpili o ka vitamin D metabolite 1.25 (OH) 2D3. ʻO ka ʻike o l, 25 (OH) 2D3 i nā mea maʻi me ka hoʻēmi iki ʻia no ka pae o ka hypophosphatemia.

Hōʻike ka maʻi iā ia iho a hiki i 2 mau makahiki o ke ola. ʻO nā hōʻailona maʻamau:

• ulu ka ulu, squat, ikaika ikaika hoonui, ʻaʻohe ona hypoplasia o ka enamel o nā niho mau, akā aia nā pihi o ka pulpula, alopecia,
• ʻO ka hypophosphatemia a me ka hyperphosphaturia me ka calcium o ke koko maʻamau a hoʻonui i ka hana o ka phosphatase alkaline,
• deformities ka wāwae ikaika (me ka hoʻomaka ʻana o ka hele),
• ʻO nā ʻano ʻōiwi X-ray e like me nā loli i ka iwi - hoʻonui i ka diaphysis ākea me ka hoʻomakeke ʻana i ka papa cortical, ke ʻano hoʻohālike o ka trabeculae, osteoporosis, vagal deformity o ka hopena haʻahaʻa, hoʻopiʻi ka hoʻomohala ʻana i ka huila, hoʻonui ʻia ka nui o ka calcium i loko o ka ʻihi.

ʻO ka reabsorption o nā phosphates i loko o ka pēpē e hoʻoneʻe i 20-30% a i ʻole liʻiliʻi, ʻo ka excretion o ka phosphorus i loko o ka urine e hoʻonui i ka 5 g / lā, ua hoʻonui ʻia ka hana o ka alkatine phosphatase (2-4 mau manawa me ka hoʻohālikelike). ʻO Hyperaminoaciduria a me glucosuria he uncharacteristic. ʻAʻole hoʻololi ʻia ka excretion calcium.

Aia he 4 mau ʻano maʻi maʻamau a me ka biochemical maʻi pākuʻi o ka phosphate e like me ka hopena i ka hoʻomaka ʻana o ka huaʻala D. I ka ʻano o ka manawa mua, ka nui o ka hoʻonui ʻana o nā hua o ka phosphate maikaʻi i loko o ke koko i ka wā e pili ana i ka hoʻonui ʻana i kā lākou reabsorption i ka pāʻai renal, ma ka lua, hoʻoiho hou ka phosphate i nā ʻōpū a me nā ʻōpio, me ke kolu - ka ulu ʻana o ka reabsorption wale nō i ka ʻōpū ma loko o ka ʻōpū, a i ka hā, ua hoʻonui maoli ka ʻike ʻana i ka vitamina D, no laila he mau wahi liʻiliʻi o ka vitamina D i mea e hōʻailona ai i ka hoʻohālikelike.

Pākuʻi II - kahi ʻano o nā ʻōhumu hypophosphatemic - he mau mana autosomal, ʻaʻole i pili ʻia me ka maʻi X chromosome. Hōʻike ʻia ka maʻi me ka

• ka hoʻomaka ʻana o ka maʻi i ka makahiki o 1-2 mau makahiki,
• ka curvature o nā wāwae me ka hoʻomaka ʻana o ka hele ʻana, akā me ka ʻole o ka loli ʻana i ke kiʻekiʻe, ikaika kino, deformations skeletal,
• ʻO ka hypophosphatemia a me ka hyperphosphaturia me ka pae o ka calcium maʻamau a me ka hoʻonui ʻana i ka hana o ka phosphatase alkaline,
• X-ray: hōʻailona hōʻino o nā rickets, akā me ka osteomalacia koʻikoʻi.

ʻAʻole i loli ka like me ka hoʻonohonoho o nā electrolytes, CBS, ka ʻikeʻana o ka hormone parathyroid, ka huiʻana o nā waikawa amino koko, ka pae o ka creatinine, a me ke koena o ka nitrogen i ka serum. ʻO ka loli i loko o ka urine he uncharacteristic.

Kūkulu III - ka hilinaʻi ʻana o autosomal res dependant i ka vitamina D (hypickcemic rickets, osteomalacia, hypophosphatemic vitamin D-dependick rickets me aminoaciduria). ʻO ke kumu o ka maʻi ka mea kolohe i ka hoʻokumu ʻana i ka 1.25 (OH) 2D3 i loko o ka pūpū, ka mea e alakaʻi ai i ka loaʻa ʻana o ka calcium i loko o ka ʻawaʻawa a me kahi hopena kūmole o ka huaʻoniʻi D ma nā ʻaluna o nā iwi, hypocalcemia, hyperaminoaciduria, hyperparathyroidism maʻa, ke kīpīwī i ka hoʻōho a me ka hypophosphatemia.

ʻO ka hoʻomaka ʻana o ka maʻi e pili ana i ka makahiki 6 mau mahina. a i nā makahiki 2 He hōʻailona nui loa:

• helehelena, hypotension, hoʻopaʻelima,
• hypocalcemia, hypophosphatemia, hyperphosphaturia a hoʻonui i ka hana o ka phosphatase alkaline i loko o ke koko. Hoʻohana ʻia ia e nā mea maʻi hormone parathyroid i hana ʻia, a ua nānā ʻia ka aminoaciduria generalized a me kahi hala ʻole kekahi mea nānā aku, i kekahi manawa he pale kuhi acidification,
• ka hoʻomaka ʻana o ka hele, stunting, ulu wikiwiki i ka deformities, nāwaliwali o ka naʻau, enamel hypoplasia, nā mea hōʻino o ka niho.
• Hōʻike ka X-ray i nā ʻoki kino i nā wahi o ka ulu o nā iwi tubular lōʻihi, nā ʻokiʻu i ka papila cortical, he ʻano o ka osteoporosis. ʻAʻohe loli ma CBS, ʻikepili o ke koena o ka hauoli, akā ke ʻano o ka l, 25 (OH) 2D3 i loko o ke koko me ka hoʻohaʻahaʻa loa.

ʻ IVlelo IV - ka nele o ka waiora D3 - ua hoʻoilina i kahi ʻano resess autosomal a i ʻole he hanana sporadically, nui loa nā maʻi ʻōpio. ʻO ka hoʻomaka ʻana o ka maʻi i ʻike ʻia i ke wā kamaliʻi, ua hōʻike ʻia e ia:

• ka ʻāpana o nā wāwae, ke hoʻololi ʻana i ka ʻūhā, nā palaka,
• alopecia pinepine a me kekahi manawa anomaly niho,
• Ua hōʻike ʻia nā kaha X-ray i nā ʻāpana like ʻole.

No ka hoʻomālikelike ʻana i ka maʻi diabetes

ʻO kekahi o nā māka e ʻōlelo nei i ka maʻi diabetes phosphate ʻo ka nele o ka maʻi maʻamau o ka dosis D (2000-5000 IU / lā) i kahi keiki e loaʻa ana ka rickets. Eia nō naʻe, ʻaʻole pololei ke ʻano o ka huaʻōlelo ʻo "vitamin D-rickets", i hoʻohana mua ʻia ai e pili i ka maʻi diabetes.

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ʻOkoʻa nā maʻi ʻokoʻa o ka maʻi diabetes

Pono e hoʻokaʻawale i ka maʻi maʻamau o ka phosphate me ka vitamin D-defuff rickets, kahi mea pono iā ia iho i ka hōʻeha paʻakikī, ʻo Toni-Debre-Fanconi syndrome, osteopathy i loko o ka hana ʻole o ke aʻalopō.

Ke hele nei nā hōʻailona o ka maʻi diabetes phosphate no ka manawa mua i ka pākeke, pono e noʻonoʻo oncogenic hypophosphatemic osteomalacia. ʻO kēia ʻano ʻano o ka maʻi paraneoplastic i ʻike ʻia i loko o nā koikoi, me ka ʻili o ka pūlule.

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Nā hopena a me nā hopena hiki

He maʻi maʻi nui ka maʻi diabetes (Phosphate) Inā ʻaʻole, hikiʻole i nā mea ʻinoʻino ke ulu pū.

E pili ana kēia:

1. Hoʻopilikia ʻia ka posture, a hoʻohuli ʻia ke kākala inā ua loaʻa kekahi i ka maʻi diabetes i ka wā kamaliʻi.
2. ʻO ke keiki me ka maʻi like ʻole e luhi pinepine ma hope o ka ulu ʻana (i ka noʻonoʻo a me ke kino kino hoʻi).
3. Hiki i ka mea maʻi ke lilo i ka maʻi ma muli o ka hiki ʻana o ka deformities articular a me nā iwi inā ʻaʻole i loaʻa ka lāʻau kūpono.
4. Ua hōʻiliʻili ʻia ka hua a me ke ʻano o ka mea i loko o nā niho o ka pēpē.
5. Hōʻike ʻia ke ala o ke ʻano o ka enamel.
6. Hiki i ka poʻe maʻi ke hōʻeha i ka lohe ʻana ma muli o ka hiki ʻole o ka hoʻomohala pono ʻana o nā iwi pepeiao waena.
7. Aia ka hopena o ka nephrocalcinosis. Hōʻike ʻia kēia maʻi e ka haʻalele ʻana i nā paʻakai kalaiwa i loko o nā aʻalolo, ma ke ʻano he hopena hiki i nā mea pathology.
8. ʻO ka maʻi diabetes Phropate, ʻike ʻia i ka wahine, hiki ke hoʻopiʻe i ka papa o ke kaʻina hānau a hoʻoili i kahi ʻāpana cesarean.

Nā hopena o nā maʻi me ka loaʻa ʻole o ka lāʻau kūpono no ke ola. Ki waho, hōʻike ʻia nā hoʻopiʻi o ka diabetes phosphate e ka ulu haʻahaʻa a me ka curvature o nā wāwae.

ʻVentionlelo ʻana i ka maʻi

ʻO ka maʻi diabetes Phropate kahi maʻi e hoʻoili ʻia i nā pilikia āpau mai nā mākua maʻi i nā keiki. Inā pili ʻia kona helehelena ma kahi predisposition genetic, a laila ʻaʻole hiki i kekahi kanaka a i ʻole kekahi kauka kūpono ke hoʻopilikia i kona hoʻomohala ʻana a kāpae i ka hopena o ka maʻi.

ʻO ke kāohi ʻana i kēia ala no ka pale ʻana i ka hopena o nā hopena a me ka hoʻohaʻahaʻa ʻana i ka hopena o ka hōʻaiʻe o ke kuāwi i nā mea maʻi o nā makahiki like ʻole.

Eia kēia mau hana.

1. He mea nui no nā mākua ke nele i nā hōʻailona mua o ka maʻi. He mea nui ia e hoʻopili koke i kahi loea no ka kōkua i mea e maopopo ai i ka maʻi phosphate i ka hoʻomaka mua ʻana o ka hoʻomohala a hoʻomaka i ka lāʻau kūpono.
2. E hoʻomau e mālama i nā keiki me nā neʻelima āpau ma ka endocrinologist a me ka lolo.
3. Hoʻoikaika i ke kūkākūkā genetic a hana i ka hoʻokolokolo pono ʻana ma ka hoʻolālā ʻana o ka hāpai ʻana no kēlā me kēia ʻohana e pili ana i nā ʻohana pili like me ke ʻano like ʻole i ka wā kamaliʻi. Mālama kēia mau makua i nā pilikia a me nā hoʻopiʻi hiki nō paha ke loaʻa i kahi keiki hānau ʻole ke mākaukau e hoʻomaka i ka mālama ʻana i nā maʻi i ka manawa kūpono.