Incidental chronic kidney disease in an obese child with high myopia: Answers
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CLINICAL QUIZ
Incidental chronic kidney disease in an obese child with high myopia: Answers Aliza Mittal 1 & Manjesh Jayappa 1 & Binit Sureka 2 & Kuldeep Singh 1 Received: 31 July 2020 / Revised: 7 August 2020 / Accepted: 15 September 2020 # IPNA 2020
Keywords Child . Myopia . Nephrocalcinosis . Chronic kidney disease . FHHNC 2 . Familial hypomagnesemia with hypercalciuria and nephrocalcinosis . Claudin19 mutation
Answers 1. Nephrocalcinosis may be a harbinger of an underlying monogenic illness. Potential monogenic causes should be investigated if a child presents even with a single stone event. Various causes for nephrocalcinosis that lead to chronic kidney disease (CKD) at this age are: a. Dent’s disease types 1 and 2/Fanconi syndrome/ cystinosis, b. Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC), c. Primary hyperoxaluria (PH), d. Cystinuria [1, 2]
There are many other disorders that may present with nephrocalcinosis, like Bartter syndromes, disorders of calcium sensing receptors (CaSR), and idiopathic calcium and kidney stone diseases. Then, there are disorders of vitamin D metabolism due to CYP24A1 mutations presenting as idiopathic infantile hypercalcemia type 1 (HCINF1) or type 2 due to mutations of sodium This refers to the article that can be found at https://doi.org/10.1007/ s00467-020-04783-1. * Aliza Mittal [email protected] 1
Department of Paediatrics, All India Institute of Medical Sciences, Room No. 3146, Medical College Block, Jodhpur, Rajasthan 342005, India
2
Department of Diagnostic and Interventional Radiology, All India Institute of Medical Sciences, Jodhpur, Rajasthan, India
phosphate co-transporter (NaPi 2a) (SLC34A1), hypervitaminosis D, and primary distal renal tubular acidosis. These are unlikely in the given context considering that early progression of CKD is not seen in these diseases and vitamin D and calcium levels were normal, which ruled out CaSR and vitamin D metabolism defects. The presence of dense unilateral or bilateral radio-opaque stones like those due to calcium oxalate should raise the suspicion of PH. This is highly likely if the child presents early in life and has persistent nausea and vomiting, leading to failure to thrive or progressive CKD even without history of passing stones. They may present with reduced kidney function over a period of time and more than 65% present before the age of 10 years with stone disease. Children with cystinuria will present with recurrent urinary tract stones in childhood. The individuals may be hypotonic at birth presenting with growth being delayed early in life and may have hyperphagia and excessive weight gain later on. Average age at stone detection is early teenage years. A significant proportion of adults may develop CKD later in life [1]. The diagnosis may be confirmed on a urine aminoacidogram (for cysteine, ornithine, lysine, and arginine) for patients screened positive through a urinary nitroprusside test. The presence of low molecular weight proteinuria and hypercalciuria, presence of kidn
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