A 29 year old man presents with recurrent gout, in association with a very high uric acid level at over 800 umol/l. His blood tests show impaired renal function, with a creatinine of 180umol/l and an e-gfr of 28 ml/min. His father has also had gout from an early age with similarly high serum uric acid levels, but normal renal function. However, a brother had to have dialysis starting at age 36, leading to transplantation. This brother also suffered from gout.
The patient's only dietary risk factor for gout was a fondness for Coca-cola. He did not drink much alcohol and consumed little red meat, shellfish, prawn or offal.
What is the diagnosis?
....v interesting topic ,since I hv lots of Hyperuricemia pts...Tnx..the case corroborates closely to 1)FJHN (Fam.Juv.Hyperuricemic nephropathy) which is an autosomal dominant condition,wherein Renal tubules mishandle the Urates associated with Progressive Renal failure.usually in young Normotensive subjects without Purine synthesis disorder.15-40 yrs of age is whn the risk is more for Renal damage & subsequent failure...tubular basement membrane damages : chronic Interstitial Nephritis.2) Second reason could be Hyperuricemia as the first manifestation of a tubular defect leading to Interstitial fibrosis & progressive Renal failure...3) Marked thickening of TBM in FJHN mimics as in MCKD. 4) since Diet coke with Fructose is safe ordinary Cola will create problem....Pl.enlighten me further with other possible Ddx...Tnx...!!!
ReplyDelete....a night guard m/35 couldn't take proper medication for fever for want of a valid Work Visa Card...he had to report however with his company people with c/o macular rashes generalised with intense pruritus & extreme fatiguability nd malaise....History reveals Fever last week which remitted 4 days back thru OTC medication. He is a smoker & k/c APD & was having Hyperacidity problems ...Inv.revealed TLC 8700/cmm,N 21%,Ly 67%,Eo 11%, PCV 43%,Platelets 151000/cmm,Bil.D 0.2mg/dl, Bil. T 0.4mg/dl,Urine Routine: Normal, MP & Widal -ve. Currently he is afebrile but weak nd the pruritus is bothering him....provisionally I thought,APD,post DF,Tr.Eosinophilia,Helminthiasis. He has no h/o cough, or long running low grade fever or any Lymphadenopathy.....thinking in terms of CXR PA ,Mantoux test nxt visit...Ur suggestions...Tnx...!!
ReplyDeleteBrilliant answer. This is indeed FJHN. Incidentally, fructose, whatever the source-fruit, fruit juice or cola, can precipitate acute gout.
ReplyDeleteThe striking feature with the nightguard is lymphocytosis with mild eosinophilia. The d/d is between 1. infections such as EBV, CMV and HIV 2. drug hypersensitivity to medications such as antibiotics or antiepileptics taken within last 3/52 and 3. Early stage of a lymphoproliferative malignancy.
Pruritus would favour either 2 or 3.
By all means, get a CXR etc, but I'd also recommend a HIV screen. See him in 2/52 and if still unwell and lymphocytosis persists, send off an EDTA sample to Mumbai for immunophenotyping (flow cytometry) to see if the lymphocytes are clonal and carry unusual markers such as CD15, CD30, absence of CD7 or CD26, etc, which would indicate a lymphoproliferative disorder. Might be worth checking Ig as well, as a peak can be found in lymphoproliferative disorders.
....Tnx....feeling gud aft ur comments...here these youngsters consume can & cans of fruit juice ,most of thm being in the F&B industry related to hospitality industry here...Yes, I am concerned abt the Lymphocytosis...& it struck me hard....but missed HIV thoughts....will try to inv.thru SRL Mumbai, nd let U know....Tnx once again...!!!
ReplyDelete.....28/m Bangla male presented with a few Subcutaneous nodes :Intercostal space, over the ribs ,one such in L Lumbar region Abd.& forearms with a longstanding history, recently painful.The largest one measured 1.5"x1.5".My past experience with this type of cases r not a rarity...& High cholesterol levels r detected in many a case...in this case the BP was 160/100....in few cases the p/c was cosmetic as these nodes appeared ugly on face, forearms ,abd...Ur thoughts solicited....Tnx...!
ReplyDeleteFrom your description, these don't appear to be xanthomas, which typically tend to occur on extensor surfaces and pressure areas. If you can clinically rule out the soft, compressible appearance of lipomas as seen in generalised lipomatosis and exclude generalised neurofibromatosis, then one is left with the possibility of cutaneous cysticercosis, which is not uncommon in the Indian SC. You don't have to be a pork-eater to get this, but simply be in contact with somebody who does and is thus a GI carrier of T.solium.
ReplyDeleteA plain Xray may show cigar shaped calcification in these cutaneous lumps and an enzyme linked assay for serology is diagnostic.
....yes, Cysticercosis I hv always presumptively assumed as in these group of Pts.Helminthiasis is rampant...with thm consuming Beef ,logically T.Saginata is implicated,will hv to chk with Chatterjee.....but on the flip side Rampant Dyslipidemia leads me to think in terms of Lipomatosis....Neurofibromas will be more diffused I thought....clinically appeared rubbery nd in this particular case the HTN could be attributed to DLP....hv asked for Inv....Tnx....!
ReplyDelete....Reports in hand...S.chol 282mg/dl,TG 150mg/dl,LDL 209mg/dl,CHO:HDL 6.6/1...Prov Dx HTN,DLP(mixed type),Lipomatosis...stool exam suggested...ur suggestions...
ReplyDelete...Filipino lady 34/f,wrkin in Island resort 228km down south near the Equator,the region whr I was originally posted nd seen host many Skin conditions.....reports with Intensive Pruritus palms,ankle groin,axilla on & off for 5mths after she reported posting to tht particular Island....o/e alteration in skin texture :palms with roughening of the skin nd flexure creases more affected nd roughened....she also had h/o Coryza with cough on & off with particular dryness of the throat...AEC 540/cmm,TLC 4500/cmm,N 45%, Eo 12%,AEC 540/cmm, CRP -ve .Ur valuable thoughts....Tnx...!
ReplyDeleteSorry for the delay. The chap with the lumps appears to have straightforward polygenic hypercholestrolemia, which would not explain his lumps. Lipomatosis is not due to hyperlipidemia. It's a common benign predisposition to lipomas which is familial. He may well have this (called Dercum's disease if painful), but would be unrelated to his cholesterol. Would still recommend a screen for cysticercosis given his origins.
ReplyDelete.....Gud one tht....whts the screen for Cysticercosis?...Tnx...
ReplyDelete....JB m/26 in Club Med Kanifinolhu a Commis presents with vague pain abd.with gas formation nd belching & eructations....he discontinued t/t in 2011 for his Dx of DLP,APD,Raised LFT...upon motivating he agreed to Inv. which reflected SGPT239iu/l,SGOT 117iu/l, GGT 66u/l,Total Bil. 7.4mg/dl, Dir.Bil. 0.38mg/dl,BUN,Creat. Normal,S.Uric acid 7.86mg/dl, S.Chol 207mg/dl, S.TG 847mg/dl, VLDL 169mg/dl. Routine Urine Normal.Upon gentle prodding he confessed to secretive Alcoholism @kitchen whr he is deputed for service....Ur expert opinion nd actionables...Tnx...!!
ReplyDeleteFor cutaneous cysticercosis, a plain Xray may show cigar shaped calcification in these cutaneous lumps and an enzyme linked assay for serology is diagnostic.
ReplyDeleteJB once again demonstrates the usefulness of the Fredrickson classification for hyperlipidemia. Rather high TG, with relatively normal VLDL and cholesterol is Class I. He is likely overweight and has fatty liver, accounting for the transaminitis (apart from alcohol, which tends to cause AST>ALT). There is a high risk of T2 Diabetes Mellitus or at least impaired GTT. His predisposition to high TG, probably caused by heterozygosity for familial hypertriglyceridemia has been uncovered by his alcohol intake, a well known risk for high TG.
Management includes gradually giving up alcohol, losing weight, more exercise and dietary carbohydrate (not fat) restriction. Also, please check FBS.
....Tnx...NMS m/38 frm Gasfinolhu Island Resort is a k/c DLP,with raised ALT,since '12 with c/o ED.His visit in May indicated a corrected Lipid Profile & LFT.but with c/o easy fatiguability.RBC indices were deranged with a Hb% 14.9 g/dl.Current SRL report for Thallasemia profile : Hb% 14.8,Hematocrit 47.6%,RBC 5.78mil./cmm,MCV 82.5,MCH 25.6,MCHC 31,RDW 15.1,Platelets 2,40,000/cmm,Mean Platelet Vol.9.9fl.WBC 8700/cmm.N 65% L 25%,Eo 2%,Mo 8%,Iron 124mic.gm/dl , TIBC 327mic.gm/dl, % Sat.38%. Hb Variant Analysis HbA 68.6 %, HbF 0.5%,Hb(E+A2) 28.4%,with retention time 3.68mts is observed in HbE/A2 window suggestive of HbE trait. Whts the significance of these findings pl.elaborate...Tnx...!
ReplyDelete....also, pl. let me know abt Tab.Sitagliptin 50mg & 100mg for DM II, how best it can be utilised as an adjunjct or can it be given as a main drug...I am new to this molecule....Tnx...!
ReplyDeleteNMS is a pretty interesting case. He is heterozygous for Hb E, a variant that's very common in the Indian subcontinent.
ReplyDeleteSubjects with Hb E have qualitatively normal beta globin chain (unlike those with beta thalassemia)- they simply produce less of it. Heterozygotes have no anaemia. The only abnormality is slight microcytosis and hypochromia- as with this chap. Hb electrphoresis in heterozygotes shows around 30% Hb E- so it all fits.
Homozygotes have mild anaemia with microcytosis, and almost 100% Hb E on electrophoresis.
.....Tnx....there is a case surge here of DF,Chikungunya,Typhoid,GE,CAPneumonia...also various pain abd.....hands & beds full...!!
ReplyDelete