12 yr boy c/c unable to walk proberly o/e-b/l genu valgum h/o -late milestone investigation - routine investigation N se.urea 55 se .creatn 2.4 ALP -1197 Se calcium-0.9 se vit D3-6.4 PTH -472 Phosphates was normal dx and t/t

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Here thing important to know whether it's a case of calcipenic or phosphopenic rickets As history suggestive of development delay it's a case of X LINKED HYPOPHOSPHATEMIC RICKETS now discuss all things one by one but firstly we should know about clinically findings in this particular case to be correlated or excluded The causes of rickets include conditions that lead to hypocalcemia and/or hypophosphatemia as a result of decreased intake; malabsorption; and/or increased excretion of calcium, phosphate, or vitamin D. To determine the optimal treatment, the common nutritional causes of rickets must be distinguished from those caused by a gastrointestinal or renal disease Alkaline phosphatase is an excellent marker of disease activity. In X-linked hypophosphatemic rickets (XLH), the serum alkaline phosphatase activity is moderately elevated (400-800 international units per liter (IU/L)) whereas in calcipenic rickets, values often reach greater levels (>1,500IU/L). The serum calcium is usually decreased in calcipenic rickets (nutritional, vitamin D dependent rickets (VDDR) or renal tubular acidosis (RTA) and renal failure rickets; discussed below), while it is normal in phosphopenic rickets. Serum phosphorus concentrations usually are low in both calcipenic and phosphopenic rickets. The total reabsorption of phosphorus (TRP) and the maximal tubular reabsorption of phosphorus per glomerular filtration rate (TmP/GFR) usually are decreased in both calcipenic and phosphopenic rickets, but decrease is severe in renal phosphate wasting type of rickets. These values are quite elevated in the setting of nutritional phosphate deprivation. In rickets due to renal failure there is high serum phosphorus. Serum creatinine: Elevated in renal failure rickets. Arterial blood gas (ABG): In rickets due to RTA there is normal anion gap (hyperchloremic metabolic acidosis. In renal failure rickets there is high anion gap metabolic acidosis. In all other varieties the ABG is normal.  generalized aminoaciduria occurs from hyperparathyroidism. However, aminoaciduria does not occur in XLH. Glycosuria and bicarbonaturia is seen in Fanconi's syndrome. The serum concentration of parathyroid hormone (PTH) typically is quite elevated in calcipenic rickets. In contrast, PTH concentrations are usually normal or modestly elevated in phosphopenic rickets. Elevated PTH levels may also be seen in X-linked hypophosphatemia (XLH). Therefore, if calcipenic rickets is diagnosed, it is mandatory to observe appropriate healing during therapy, and if predicted response does not occur, XLH should be considered. Advise URINARY PH to rule out associated acidosis and radiographic wrist xray , ABG, ELECTROLYTE,GLUCOSE URINARY and blood As in this particular case if we collect information as development delay with secondary hyperparathyroidism rickets raised urea creatinine levels raised ALKALINE phosphatase level with normal phosphate high possibility of diagnosis X LINKED HYPOPHOSPHPATEMIC RICKETS in which phosphate level can be normal with secondary hyperparathyroidism Treatment is treat cause and inj vitamin d3

Very informative explanation @Dr. Ashok Pareek
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Genu valgum maybe congenital Rickets of renal origin May be Pt has CRF Hyper parathyroidism Needs Inj Vit D3 Calcium supplementation Consultation with Pediatric nephrologist

Hyperparathyroidism should have hypercalcemia and hypophosphetemia. It doesn't cause rickets and doesnt raise alk phos. It has to b a sevondary hyper PTH.
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Hi dr khemeswar Looks like renal rickets with secondary hyperparathyroidism. Get usg abdomen for renal parameters. Phosphate is low because of sec hyperpara that will excrete the excess phosphate from renal failure. RTA needs to be ruled out first. What about upper limbs ? Were there were rachetic changes too ? What is the calcium level ? O.9 ?? Point not in favour of Hypophosphatemic rickets are --- Phosphate normal More commonly genu varum PTH will be normal or mildly elevated Calcium will be normal Other features like sparing of upper limbs, dental abscesses. My diagnosis is CKD with sec hyperpara or RTA Thanks for such a good case.

Thank you sir @Dr. Pradeep Tvs No such rachetic changes in upper limb Actually this case was admitted to our dept. of orthopaedic for surgical treatment of genu valgum But now he has been discharged with vit D and cacium Called after 2 months for surgery (if the levels comes to normal range).
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12 year child, unable to walk properly. H/O LATE MILESTONES + Picture presentation show "GENU VALGUM" BIO-CHEMICAL DATA IN FAVOUR OF RICKETS. BUT, BUT IMPORTANTLY RADIOLOGICAL IMAGING IS VERY IMPORTANT. DX : RICKETS. D/D : RTA. (ABG ANALYSIS) RESISTANT RICKETS.

Thank you sir .. Sir what can be done for the deformity Sx of both the knees Or it will be corrected gradually with supplementation of calcium and vit D3
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This looks like renal osteodystrophy. Hyperphosphatemia will cllnch the diagnosis

Phosphate is normal
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?Renal tubular acidosis .? ?VDDR.ABG to rule out metabolic acidosis if any

Metabolic cause(renal failure)

Rule out gout.

Ok sir thank you
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Try hkfo ie hip, knee & foot orthotic's after doing exercises or send the child to bhavitha centers in their mandal which is being run under rvm rajiv vidhya mission where treatment is given for free of cost. If sadharam certificate is issued. The child is eligible for rs 1500/month.

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