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Rheumatic heart disease (RHD) management can be divided into two main strategies: prevention and long-term management.Primary PreventionPrimary prevention focuses on timely diagnosis and management of group A streptococcal pharyngitis to prevent acute rheumatic fever. The most widely used antibiotic for treating this condition is intramuscular benzathine penicillin G.Acute Rheumatic Fever TreatmentThe primary treatment goal for a patient diagnosed with acute rheumatic fever is to suppress the...
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AssessmentA comprehensive assessment is essential in managing a patient with rheumatic heart disease (RHD). Begin with obtaining a detailed medical history, including recent streptococcal infections, a history of rheumatic fever, or previously diagnosed rheumatic heart disease. Assess the patient for symptoms such as fever, chest pain, widespread joint pain (arthralgia), tachycardia, pericardial friction rub, muffled heart sounds, heart murmurs, peripheral edema, subcutaneous nodules, and...
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Refractory Rickets: Evaluation and Management.

Sriram Krishnamurthy1

  • 1Pediatric Nephrology Services, Department of Pediatrics, Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER), Pondicherry, 605006, India. drsriramk@yahoo.com.

Indian Journal of Pediatrics
|February 25, 2026
PubMed
Summary
This summary is machine-generated.

Refractory rickets, unresponsive to vitamin D, presents a diagnostic challenge in children. An algorithmic approach using biochemical tests and next-generation sequencing (NGS) aids in accurate diagnosis and targeted therapy for this condition.

Keywords:
Chronic kidney diseaseDistal renal tubular acidosisFanconi syndromeHypophosphatemic ricketsRefractory ricketsVitamin D-dependent rickets

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Area of Science:

  • Pediatric Nephrology
  • Endocrinology
  • Genetics

Background:

  • Refractory rickets is characterized by a lack of response to standard vitamin D therapy.
  • Various inherited and acquired kidney diseases, including chronic kidney disease (CKD)-mineral bone disorder, can cause refractory rickets.
  • Hypophosphatemia is a common finding in both calcipenic and phosphopenic rickets.

Purpose of the Study:

  • To outline an algorithmic approach for evaluating children with refractory rickets.
  • To highlight the importance of biochemical tests and next-generation sequencing (NGS) in diagnosing refractory rickets.
  • To discuss the pathophysiology and management of common causes of refractory rickets.

Main Methods:

  • Systematic review of literature on refractory rickets.
  • Description of an algorithmic diagnostic pathway.
  • Emphasis on biochemical evaluation (blood and urine tests) and genetic testing (NGS).

Main Results:

  • An algorithmic approach facilitates the diagnosis of refractory rickets.
  • Next-generation sequencing (NGS) enables prompt and accurate etiological identification.
  • Effective management requires regular follow-up to optimize biochemical parameters, monitor growth, and slow CKD progression.

Conclusions:

  • Refractory rickets requires a comprehensive diagnostic strategy.
  • Early and accurate diagnosis through biochemical and genetic testing is crucial for targeted therapy.
  • Long-term management involves monitoring and optimizing care to improve outcomes for affected children.